{"id":"https://openalex.org/W2170455861","doi":null,"title":"Joubert syndrome in the Netherlands. Clinical and genetic aspects","display_name":"Joubert syndrome in the Netherlands. Clinical and genetic aspects","publication_year":2014,"publication_date":"2014-10-08","ids":{"openalex":"https://openalex.org/W2170455861","mag":"2170455861"},"language":"en","primary_location":{"id":"pmh:oai:dspace.library.uu.nl:1874/305619","doi":null,"is_oa":false,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/305619","pdf_url":null,"source":{"id":"https://openalex.org/S4306401649","display_name":"Utrecht University Repository (Utrecht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193662353","host_organization_name":"Utrecht University","host_organization_lineage":["https://openalex.org/I193662353"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dissertation"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5108114736","display_name":"Hester Y. Kroes","orcid":"https://orcid.org/0000-0002-2573-3038","observed_orcids":["https://orcid.org/0000-0002-2573-3038"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Hester Y. Kroes","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5108114736"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.9937000274658203,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.9937000274658203,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.003100000089034438,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/joubert-syndrome","display_name":"Joubert syndrome","score":0.9769999980926514},{"id":"https://openalex.org/keywords/ciliopathy","display_name":"ciliopathies","score":0.9819999933242798},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.8330000042915344},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.7089999914169312},{"id":"https://openalex.org/keywords/retinal-coloboma","display_name":"retinal coloboma","score":0.8199999928474426},{"id":"https://openalex.org/keywords/leber-congenital-amaurosis","display_name":"Leber congenital amaurosis","score":0.9100000262260437},{"id":"https://openalex.org/keywords/cystic-kidney-disease","display_name":"cystic kidney disease","score":0.8619999885559082},{"id":"https://openalex.org/keywords/liver-fibrosis","display_name":"liver fibrosis","score":0.9610000252723694},{"id":"https://openalex.org/keywords/charge-syndrome","display_name":"CHARGE syndrome","score":0.9929999709129333},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.4970000088214874},{"id":"https://openalex.org/keywords/hyperventilation","display_name":"hyperventilation","score":0.7149999737739563},{"id":"https://openalex.org/keywords/eye-movement-abnormalities","display_name":"eye movement abnormalities","score":0.4309999942779541}],"concepts":[{"id":"https://openalex.org/C2777386794","wikidata":"https://www.wikidata.org/wiki/Q1101694","display_name":"Joubert syndrome","level":3,"score":0.754775881767273},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.34690767526626587},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.33838558197021484},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2565684914588928},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1825229823589325},{"id":"https://openalex.org/C100094513","wikidata":"https://www.wikidata.org/wiki/Q180436","display_name":"Cilium","level":2,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"pmh:oai:dspace.library.uu.nl:1874/305619","doi":null,"is_oa":false,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/305619","pdf_url":null,"source":{"id":"https://openalex.org/S4306401649","display_name":"Utrecht University Repository (Utrecht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193662353","host_organization_name":"Utrecht University","host_organization_lineage":["https://openalex.org/I193662353"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dissertation"},{"id":"pmh:umcu:oai:dspace.library.uu.nl:1874/305619","doi":null,"is_oa":false,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/305619","pdf_url":null,"source":{"id":"https://openalex.org/S4306401649","display_name":"Utrecht University Repository (Utrecht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193662353","host_organization_name":"Utrecht University","host_organization_lineage":["https://openalex.org/I193662353"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/doctoralthesis"},{"id":"pmh:uu:oai:dspace.library.uu.nl:1874/305619","doi":null,"is_oa":false,"landing_page_url":"http://dspace.library.uu.nl/handle/1874/305619","pdf_url":null,"source":{"id":"https://openalex.org/S4306401649","display_name":"Utrecht University Repository (Utrecht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193662353","host_organization_name":"Utrecht University","host_organization_lineage":["https://openalex.org/I193662353"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/doctoralthesis"},{"id":"mag:2170455861","doi":null,"is_oa":false,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/305619","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9074000120162964,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":239,"referenced_works":["https://openalex.org/W14931162","https://openalex.org/W26362766","https://openalex.org/W33479819","https://openalex.org/W113984154","https://openalex.org/W200810324","https://openalex.org/W586166322","https://openalex.org/W1548084460","https://openalex.org/W1554815317","https://openalex.org/W1581645956","https://openalex.org/W1603149591","https://openalex.org/W1964159332","https://openalex.org/W1964444099","https://openalex.org/W1965213934","https://openalex.org/W1965611772","https://openalex.org/W1965849666","https://openalex.org/W1966657929","https://openalex.org/W1967065393","https://openalex.org/W1967877159","https://openalex.org/W1968370475","https://openalex.org/W1969402201","https://openalex.org/W1970236704","https://openalex.org/W1972261749","https://openalex.org/W1972775523","https://openalex.org/W1974754172","https://openalex.org/W1974757039","https://openalex.org/W1975670375","https://openalex.org/W1979572058","https://openalex.org/W1979911031","https://openalex.org/W1980256495","https://openalex.org/W1982204593","https://openalex.org/W1982833228","https://openalex.org/W1983701421","https://openalex.org/W1983745485","https://openalex.org/W1984394730","https://openalex.org/W1984510611","https://openalex.org/W1984659922","https://openalex.org/W1984712185","https://openalex.org/W1984750217","https://openalex.org/W1985225356","https://openalex.org/W1986130433","https://openalex.org/W1988670106","https://openalex.org/W1988928475","https://openalex.org/W1989958893","https://openalex.org/W1993024548","https://openalex.org/W1993783732","https://openalex.org/W1993925613","https://openalex.org/W1994353334","https://openalex.org/W1998494322","https://openalex.org/W1999160620","https://openalex.org/W1999762161","https://openalex.org/W2000128710","https://openalex.org/W2001393962","https://openalex.org/W2002940960","https://openalex.org/W2004945792","https://openalex.org/W2005026998","https://openalex.org/W2007510388","https://openalex.org/W2007837064","https://openalex.org/W2008008485","https://openalex.org/W2010384718","https://openalex.org/W2011264089","https://openalex.org/W2011450474","https://openalex.org/W2012222895","https://openalex.org/W2013938815","https://openalex.org/W2014624027","https://openalex.org/W2014938626","https://openalex.org/W2015234820","https://openalex.org/W2016504972","https://openalex.org/W2016559364","https://openalex.org/W2017349612","https://openalex.org/W2018924297","https://openalex.org/W2023892306","https://openalex.org/W2027789648","https://openalex.org/W2027880423","https://openalex.org/W2027977273","https://openalex.org/W2028475547","https://openalex.org/W2028651090","https://openalex.org/W2029554412","https://openalex.org/W2029612353","https://openalex.org/W2031240463","https://openalex.org/W2032757809","https://openalex.org/W2032792789","https://openalex.org/W2033096876","https://openalex.org/W2033375640","https://openalex.org/W2033824449","https://openalex.org/W2034822483","https://openalex.org/W2035819383","https://openalex.org/W2038208381","https://openalex.org/W2038678925","https://openalex.org/W2039060827","https://openalex.org/W2039819049","https://openalex.org/W2041103176","https://openalex.org/W2041530623","https://openalex.org/W2041964741","https://openalex.org/W2042342349","https://openalex.org/W2042396822","https://openalex.org/W2042584354","https://openalex.org/W2044949852","https://openalex.org/W2045616300","https://openalex.org/W2046743827","https://openalex.org/W2047078034","https://openalex.org/W2048917351","https://openalex.org/W2050281909","https://openalex.org/W2051762601","https://openalex.org/W2052486633","https://openalex.org/W2054240869","https://openalex.org/W2055455872","https://openalex.org/W2056150162","https://openalex.org/W2056974292","https://openalex.org/W2058077945","https://openalex.org/W2058705034","https://openalex.org/W2059858264","https://openalex.org/W2060126691","https://openalex.org/W2060587175","https://openalex.org/W2063293509","https://openalex.org/W2064207737","https://openalex.org/W2064485297","https://openalex.org/W2064966510","https://openalex.org/W2064984000","https://openalex.org/W2065492302","https://openalex.org/W2066041050","https://openalex.org/W2066455240","https://openalex.org/W2073654616","https://openalex.org/W2073777182","https://openalex.org/W2074085626","https://openalex.org/W2074590805","https://openalex.org/W2075467410","https://openalex.org/W2078649220","https://openalex.org/W2080273070","https://openalex.org/W2080890186","https://openalex.org/W2081514251","https://openalex.org/W2082030057","https://openalex.org/W2082853783","https://openalex.org/W2083982327","https://openalex.org/W2083988049","https://openalex.org/W2087054876","https://openalex.org/W2089289524","https://openalex.org/W2090914486","https://openalex.org/W2091346080","https://openalex.org/W2092603007","https://openalex.org/W2094390120","https://openalex.org/W2096875755","https://openalex.org/W2098559443","https://openalex.org/W2099008080","https://openalex.org/W2099247534","https://openalex.org/W2099907183","https://openalex.org/W2100675331","https://openalex.org/W2101266961","https://openalex.org/W2102864788","https://openalex.org/W2103638516","https://openalex.org/W2106598244","https://openalex.org/W2107267690","https://openalex.org/W2107648723","https://openalex.org/W2108545390","https://openalex.org/W2108579793","https://openalex.org/W2109270798","https://openalex.org/W2110283302","https://openalex.org/W2111180133","https://openalex.org/W2112101855","https://openalex.org/W2113390612","https://openalex.org/W2113764519","https://openalex.org/W2114339744","https://openalex.org/W2115586943","https://openalex.org/W2117568356","https://openalex.org/W2117687478","https://openalex.org/W2120185413","https://openalex.org/W2120728615","https://openalex.org/W2121416524","https://openalex.org/W2122207295","https://openalex.org/W2122239907","https://openalex.org/W2122792426","https://openalex.org/W2122858097","https://openalex.org/W2123992318","https://openalex.org/W2124620233","https://openalex.org/W2124879534","https://openalex.org/W2125636494","https://openalex.org/W2125818790","https://openalex.org/W2128042564","https://openalex.org/W2128454141","https://openalex.org/W2129387818","https://openalex.org/W2129394277","https://openalex.org/W2130801954","https://openalex.org/W2131428860","https://openalex.org/W2131587128","https://openalex.org/W2131999768","https://openalex.org/W2132825771","https://openalex.org/W2133108185","https://openalex.org/W2135979384","https://openalex.org/W2137852781","https://openalex.org/W2138779444","https://openalex.org/W2139913482","https://openalex.org/W2140250064","https://openalex.org/W2141813845","https://openalex.org/W2142337477","https://openalex.org/W2142808441","https://openalex.org/W2143076431","https://openalex.org/W2143533927","https://openalex.org/W2143600289","https://openalex.org/W2144395096","https://openalex.org/W2144671735","https://openalex.org/W2145237803","https://openalex.org/W2145278939","https://openalex.org/W2147194233","https://openalex.org/W2148294117","https://openalex.org/W2149917113","https://openalex.org/W2149995096","https://openalex.org/W2150641634","https://openalex.org/W2150928079","https://openalex.org/W2151099844","https://openalex.org/W2152007993","https://openalex.org/W2153855621","https://openalex.org/W2156190275","https://openalex.org/W2157192366","https://openalex.org/W2157218392","https://openalex.org/W2157378944","https://openalex.org/W2158094580","https://openalex.org/W2159485495","https://openalex.org/W2161870393","https://openalex.org/W2162586041","https://openalex.org/W2162681116","https://openalex.org/W2166217974","https://openalex.org/W2166857360","https://openalex.org/W2167309966","https://openalex.org/W2167757351","https://openalex.org/W2168636256","https://openalex.org/W2168960644","https://openalex.org/W2169489543","https://openalex.org/W2170735211","https://openalex.org/W2171130544","https://openalex.org/W2171608919","https://openalex.org/W2171691658","https://openalex.org/W2171872309","https://openalex.org/W2172066856","https://openalex.org/W2190139751","https://openalex.org/W2273091615","https://openalex.org/W2401193906","https://openalex.org/W2413795299","https://openalex.org/W2474318899","https://openalex.org/W2765203198","https://openalex.org/W4245090523"],"related_works":["https://openalex.org/W2141813845","https://openalex.org/W2027977273","https://openalex.org/W2954255656","https://openalex.org/W4321478760","https://openalex.org/W1993381719","https://openalex.org/W4206702489","https://openalex.org/W4248489326","https://openalex.org/W2004044775","https://openalex.org/W1590330782","https://openalex.org/W2274755580"],"abstract_inverted_index":{"The":[0,117,261,340,735,766],"ciliopathies,":[1,481],"a":[2,34,85,555,558,562,678,684,698,722,778],"collective":[3],"of":[4,9,18,23,26,51,60,67,93,110,125,167,194,235,274,293,368,378,387,391,411,420,445,467,520,537,577,580,594,604,631,686,716,738,745,768,775],"diseases":[5,25],"caused":[6],"by":[7,241,255],"dysfunction":[8],"the":[10,19,27,40,52,57,68,74,80,94,102,106,123,147,163,168,192,212,215,227,236,271,275,281,297,304,363,366,369,376,388,396,405,418,434,455,464,488,511,517,525,578,584,602,608,617,620,624,629,637,642,673,713,733,746,758,761,769,773],"primary":[11],"cilia,":[12],"have":[13,112,220,302,462,471,494,543],"proven":[14],"to":[15,48,91,172,226,350,383,394,401,423,542,548,591,599],"be":[16,49,173],"one":[17,50],"most":[20],"exciting":[21],"groups":[22],"new":[24,700,714],"last":[28,81,276],"ten":[29],"years.":[30],"Joubert":[31,127,237],"syndrome":[32,75,169,203,209,316,330,343],"(JBS),":[33],"rare":[35,671],"neurodevelopmental":[36],"disorder":[37],"described":[38,134,146,532],"for":[39,659,666,781],"first":[41,148,262,370],"time":[42,643],"in":[43,130,270,280,362,372,454,479,514,564,573,583,607,672,742,785],"1969,":[44],"has":[45,76,357,476],"turned":[46,540],"out":[47,541],"quintessential":[53],"ciliopathies.":[54],"JBS":[55,111,120,155,294,308,361,392,413,457,492,586,610,652,687,701,728,739,782],"shows":[56],"wide":[58],"range":[59],"clinical":[61,195,406,443],"features":[62,196,292,466],"and":[63,105,142,186,247,253,279,286,300,309,324,328,335,344,400,408,427,438,485,497,588,623,645,689,692,709,730,748,760,772,788],"genetic":[64,108,409],"heterogeneity":[65],"typical":[66],"ciliary":[69,762],"diseases.":[70],"Our":[71],"knowledge":[72],"on":[73,101,119,264,360,433,442,683],"expanded":[77],"considerably":[78],"over":[79],"twenty":[82],"years":[83,213],"(for":[84],"general":[86],"overview,":[87],"I":[88],"also":[89,157,693],"refer":[90],"some":[92,480],"excellent":[95],"reviews":[96],"1-6).":[97],"However,":[98],"many":[99,218,491],"questions":[100],"phenotypical":[103],"variability":[104],"complex":[107],"background":[109,410],"not":[113,546],"been":[114,221,358,477,649],"answered":[115],"yet.":[116],"literature":[118,759],"started":[121],"with":[122,137,197,201,311,352,533,557,561,566],"report":[124,554],"Marie":[126],"et":[128,243,249,257],"al.":[129,244,250,258],"1969":[131],"7.":[132,789],"She":[133],"four":[135],"siblings":[136],"hyperventilation,":[138],"abnormal":[139,183],"eye":[140,184],"movements":[141],"psychomotor":[143],"retardation.":[144],"Boltshauser":[145],"European":[149],"cases":[150],"8;":[151],"this":[152,353,379,574,632],"is":[153,156,503],"why":[154],"known":[158],"as":[159,233,291,651,697,777],"Joubert-Boltshauser":[160],"syndrome.":[161],"In":[162,211,447,506,550,612,706],"initial":[164,216,535],"reports":[165,219,263],"hallmarks":[166],"were":[170,239,269,289,570],"considered":[171],"mental":[174],"(and":[175],"motor)":[176],"retardation,":[177],"hypotonia,":[178],"and,":[179],"specifically,":[180],"periodic":[181],"hyperpnea,":[182],"movements,":[185],"vermis":[187,318],"aplasia.":[188],"Several":[189],"authors":[190],"recognized":[191,290],"overlap":[193],"other":[198],"syndromes":[199,310],"(e.g.":[200],"orofacialdigital":[202],"type":[204],"1":[205,374],"9,":[206],"or":[207,662],"CHARGE":[208],"10).":[210],"following":[214],"descriptions,":[217],"published":[222,359],"adding":[223],"additional":[224],"symptoms":[225],"phenotype.":[228],"For":[229],"instance,":[230],"retinal":[231,265,333],"colobomas":[232],"part":[234],"phenotype":[238,560],"reported":[240,478,784],"Lindhout":[242],"(1980)":[245],"11,":[246],"Aicardi":[248],"(1983)":[251],"12,":[252],"polydactyly":[254],"Egger":[256],"(1982)":[259],"13.":[260],"dysplasia/Lebers":[266],"congenital":[267,321],"amaurosis":[268],"early":[272],"eighties":[273],"century":[277],"12,14,15,":[278],"nineties":[282],"cystic":[283,336],"kidney":[284,337],"disease":[285,334,484],"hepatic":[287,325],"fibrosis":[288,326],"16.":[295],"Over":[296],"years,":[298],"lumpers":[299],"splitters":[301],"defined":[303],"shifting":[305],"boundaries":[306],"between":[307],"overlapping":[312],"symptoms,":[313],"e.g.":[314,482],"COACH":[315],"(cerebellar":[317,331],"hypoplasia,":[319,332],"oligophrenia,":[320],"ataxia,":[322],"coloboma,":[323],"17),":[327],"ARIMA":[329],"disease)":[338],"18.":[339],"term":[341],"\u201cJoubert":[342],"related":[345,428,547],"disorders":[346],"(JSRD)\u201d":[347],"was":[348,636],"coined":[349],"cope":[351],"ongoing":[354],"debate.":[355],"Little":[356],"Netherlands,":[364],"since":[365],"description":[367],"case":[371],"1980":[373],"At":[375,628,641],"start":[377,630],"study,":[380,633],"we":[381,431,450,509,553,615,676,711,750],"aimed":[382],"obtain":[384],"an":[385,534],"overview":[386],"Dutch":[389,397,412,456,585,609,674],"population":[390,587],"patients,":[393],"estimate":[395],"birth":[398],"prevalence,":[399],"gain":[402],"insight":[403],"into":[404],"course":[407],"cases.":[414],"This":[415],"thesis":[416],"describes":[417],"results":[419,522,603,767],"our":[421,589],"efforts":[422],"solve":[424],"these":[425],"questions,":[426],"topics":[429],"that":[430,490],"encountered":[432],"way.":[435],"Chapters":[436,597],"2":[437,449],"3":[439,508],"are":[440,531,669,783],"focused":[441],"aspects":[444],"JBS.":[446,549],"Chapter":[448,507,551,613,707,786],"investigated":[451,472,616,694],"hearing":[452,502],"loss":[453,475],"patient":[458],"cohort.":[459,611],"Many":[460],"studies":[461,606],"addressed":[463],"visual":[465],"JBS,":[468,515,538],"but":[469],"none":[470],"hearing.":[473],"Hearing":[474],"Alstrom":[483],"BBS.":[486],"Given":[487],"fact":[489],"patients":[493,530,582],"reduced":[495],"vision":[496],"impaired":[498],"speech":[499],"development,":[500],"adequate":[501],"extremely":[504],"important.":[505],"discuss":[510],"diagnostic":[512],"pitfalls":[513],"especially":[516,571],"correct":[518],"interpretation":[519],"MRI":[521],"when":[523],"evaluating":[524],"molar":[526],"tooth":[527],"sign.":[528],"Two":[529],"diagnosis":[536],"who":[539],"chromosomal":[544],"rearrangements":[545],"4":[552],"family":[556,575],"JBS-like":[559],"pedigree":[563],"line":[565],"X-linked":[567,595],"inheritance.":[568],"We":[569,720],"interested":[572],"because":[576],"excess":[579],"male":[581],"expectation":[590],"find":[592],"involvement":[593],"genes.":[596,654],"5":[598],"7":[600,710],"describe":[601],"molecular":[605,736],"5,":[614],"AHI1":[618,644],"gene,":[619,622],"NPHP1":[621,646],"CYCLIN":[625,695],"D1":[626,696],"gene.":[627],"Sanger":[634],"sequencing":[635],"only":[638],"tool":[639],"available.":[640],"had":[647],"just":[648],"identified":[650],"causing":[653],"Since":[655],"large":[656],"families":[657,664],"suitable":[658,665],"linkage":[660],"analysis":[661,771],"consanguineous":[663],"homozygosity":[667],"mapping":[668],"relatively":[670],"population,":[675],"chose":[677],"candidate":[679,754],"gene":[680,702,780],"approach":[681],"based":[682],"combination":[685],"loci":[688],"animal":[690],"models,":[691],"possible":[699],"(OMIM":[703],"#":[704],"168461).":[705],"6":[708,787],"utilized":[712],"possibilities":[715],"next":[717],"generation":[718],"sequencing.":[719],"developed":[721],"targeted":[723],"NGS":[724],"array":[725],"containing":[726],"22":[727],"genes":[729,755],"named":[731],"it":[732],"Joubertome.":[734],"cause":[737],"remains":[740],"elusive":[741],"about":[743],"half":[744],"cases,":[747],"therefor":[749],"added":[751],"around":[752],"600":[753],"selected":[756],"from":[757],"proteome":[763],"database":[764],"[http://v3.ciliaproteome.org].":[765],"Joubertome":[770],"finding":[774],"MKS1":[776],"novel":[779]},"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2016-06-24T00:00:00"}