{"id":"https://openalex.org/W85681463","doi":"https://doi.org/10.1007/978-3-642-57043-8_17","title":"Molekulargenetische Grundlagen des fra(X)-Syndroms\u2014Diagnostik und therapeutische Hilfen","display_name":"Molekulargenetische Grundlagen des fra(X)-Syndroms\u2014Diagnostik und therapeutische Hilfen","publication_year":2000,"publication_date":"2000-01-01","ids":{"openalex":"https://openalex.org/W85681463","doi":"https://doi.org/10.1007/978-3-642-57043-8_17","mag":"85681463"},"language":"de","primary_location":{"id":"doi:10.1007/978-3-642-57043-8_17","doi":"https://doi.org/10.1007/978-3-642-57043-8_17","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-642-57043-8_17","pdf_url":null,"source":{"id":"https://openalex.org/S4306463937","display_name":"Springer eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Monogen bedingte Erbkrankheiten 1","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W1788915966","display_name":"Monogen bedingte Erbkrankheiten 1"},"type":"book-chapter","indexed_in":["crossref"],"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/A5050655185","display_name":"Peter J. Steinbach","orcid":"https://orcid.org/0000-0002-6710-3472","observed_orcids":["https://orcid.org/0000-0002-6710-3472"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Peter Steinbach","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5050655185"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.03536184,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"479","last_page":"511"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.736299991607666,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.736299991607666,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.20730000734329224,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.02800000086426735,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.8399999737739563},{"id":"https://openalex.org/keywords/hereditary-intellectual-disability","display_name":"hereditary intellectual disability","score":0.7910000085830688},{"id":"https://openalex.org/keywords/molecular-genetic-diagnosis","display_name":"molecular genetic diagnosis","score":0.6470000147819519},{"id":"https://openalex.org/keywords/x-chromosome","display_name":"X chromosome","score":0.3930000066757202},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.746999979019165},{"id":"https://openalex.org/keywords/mode-of-inheritance","display_name":"mode of inheritance","score":0.5329999923706055},{"id":"https://openalex.org/keywords/treatment","display_name":"treatment","score":0.3240000009536743}],"concepts":[{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.6232472062110901},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.36861366033554077}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/978-3-642-57043-8_17","doi":"https://doi.org/10.1007/978-3-642-57043-8_17","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-642-57043-8_17","pdf_url":null,"source":{"id":"https://openalex.org/S4306463937","display_name":"Springer eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Monogen bedingte Erbkrankheiten 1","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.766700029373169,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":212,"referenced_works":["https://openalex.org/W41880118","https://openalex.org/W41886280","https://openalex.org/W99365238","https://openalex.org/W109288398","https://openalex.org/W111563181","https://openalex.org/W134888444","https://openalex.org/W189111694","https://openalex.org/W275670288","https://openalex.org/W1228046468","https://openalex.org/W1486091068","https://openalex.org/W1503611543","https://openalex.org/W1504831361","https://openalex.org/W1505360591","https://openalex.org/W1511922211","https://openalex.org/W1529548736","https://openalex.org/W1533394581","https://openalex.org/W1545354978","https://openalex.org/W1564811764","https://openalex.org/W1573910699","https://openalex.org/W1589532501","https://openalex.org/W1593368233","https://openalex.org/W1595039103","https://openalex.org/W1636503892","https://openalex.org/W1642338065","https://openalex.org/W1683691009","https://openalex.org/W1827283817","https://openalex.org/W1912137216","https://openalex.org/W1944807840","https://openalex.org/W1963591075","https://openalex.org/W1963705823","https://openalex.org/W1966891860","https://openalex.org/W1972369322","https://openalex.org/W1972711321","https://openalex.org/W1973198154","https://openalex.org/W1973881315","https://openalex.org/W1975576726","https://openalex.org/W1977283045","https://openalex.org/W1977735857","https://openalex.org/W1978065796","https://openalex.org/W1978236923","https://openalex.org/W1978299132","https://openalex.org/W1980083127","https://openalex.org/W1982124514","https://openalex.org/W1982716670","https://openalex.org/W1983385891","https://openalex.org/W1984865535","https://openalex.org/W1986537412","https://openalex.org/W1986636847","https://openalex.org/W1987718203","https://openalex.org/W1989187665","https://openalex.org/W1989843422","https://openalex.org/W1991510939","https://openalex.org/W1995299474","https://openalex.org/W1995582468","https://openalex.org/W1997375278","https://openalex.org/W1997557106","https://openalex.org/W1997975229","https://openalex.org/W1999715807","https://openalex.org/W1999730046","https://openalex.org/W2001087751","https://openalex.org/W2002607580","https://openalex.org/W2002760096","https://openalex.org/W2002780348","https://openalex.org/W2004530118","https://openalex.org/W2008270359","https://openalex.org/W2008922773","https://openalex.org/W2010703763","https://openalex.org/W2011042982","https://openalex.org/W2012446610","https://openalex.org/W2014102314","https://openalex.org/W2014200281","https://openalex.org/W2014571977","https://openalex.org/W2016738749","https://openalex.org/W2018036097","https://openalex.org/W2018916360","https://openalex.org/W2022174739","https://openalex.org/W2022257681","https://openalex.org/W2022959185","https://openalex.org/W2023648173","https://openalex.org/W2025133427","https://openalex.org/W2026456570","https://openalex.org/W2026753243","https://openalex.org/W2028396927","https://openalex.org/W2028600074","https://openalex.org/W2029687941","https://openalex.org/W2031379218","https://openalex.org/W2031571225","https://openalex.org/W2033790967","https://openalex.org/W2034056708","https://openalex.org/W2034136228","https://openalex.org/W2035216824","https://openalex.org/W2035470829","https://openalex.org/W2036534913","https://openalex.org/W2036872469","https://openalex.org/W2037225821","https://openalex.org/W2037863648","https://openalex.org/W2038269919","https://openalex.org/W2039267425","https://openalex.org/W2039298748","https://openalex.org/W2039826611","https://openalex.org/W2039840132","https://openalex.org/W2040118711","https://openalex.org/W2043500008","https://openalex.org/W2044558449","https://openalex.org/W2046530033","https://openalex.org/W2047378898","https://openalex.org/W2047901053","https://openalex.org/W2049511526","https://openalex.org/W2051013729","https://openalex.org/W2051541374","https://openalex.org/W2053987447","https://openalex.org/W2055092110","https://openalex.org/W2055332802","https://openalex.org/W2055432866","https://openalex.org/W2055569487","https://openalex.org/W2059219763","https://openalex.org/W2061773171","https://openalex.org/W2061795784","https://openalex.org/W2061909693","https://openalex.org/W2063127778","https://openalex.org/W2063668497","https://openalex.org/W2064543978","https://openalex.org/W2064563306","https://openalex.org/W2064639043","https://openalex.org/W2064947206","https://openalex.org/W2066398640","https://openalex.org/W2069342842","https://openalex.org/W2071545250","https://openalex.org/W2072447223","https://openalex.org/W2073044584","https://openalex.org/W2074603217","https://openalex.org/W2074702132","https://openalex.org/W2075344525","https://openalex.org/W2081832480","https://openalex.org/W2082078122","https://openalex.org/W2083554523","https://openalex.org/W2084531784","https://openalex.org/W2084547117","https://openalex.org/W2085209572","https://openalex.org/W2086812350","https://openalex.org/W2090540942","https://openalex.org/W2091493801","https://openalex.org/W2091926916","https://openalex.org/W2092246905","https://openalex.org/W2092479476","https://openalex.org/W2093546477","https://openalex.org/W2094168800","https://openalex.org/W2094415025","https://openalex.org/W2094847130","https://openalex.org/W2094895064","https://openalex.org/W2095329435","https://openalex.org/W2095986590","https://openalex.org/W2096252283","https://openalex.org/W2097927344","https://openalex.org/W2099945187","https://openalex.org/W2100505524","https://openalex.org/W2100770813","https://openalex.org/W2101679570","https://openalex.org/W2104680403","https://openalex.org/W2105351024","https://openalex.org/W2106239245","https://openalex.org/W2109436341","https://openalex.org/W2111354983","https://openalex.org/W2115306800","https://openalex.org/W2116897041","https://openalex.org/W2116996762","https://openalex.org/W2117743569","https://openalex.org/W2119787118","https://openalex.org/W2121016730","https://openalex.org/W2121082106","https://openalex.org/W2121752589","https://openalex.org/W2124599891","https://openalex.org/W2126555879","https://openalex.org/W2129173429","https://openalex.org/W2132289038","https://openalex.org/W2133681744","https://openalex.org/W2135689989","https://openalex.org/W2135732252","https://openalex.org/W2136633320","https://openalex.org/W2136892953","https://openalex.org/W2137391937","https://openalex.org/W2138074651","https://openalex.org/W2139424308","https://openalex.org/W2140382995","https://openalex.org/W2140540720","https://openalex.org/W2142133430","https://openalex.org/W2143433556","https://openalex.org/W2144534608","https://openalex.org/W2144995800","https://openalex.org/W2147339768","https://openalex.org/W2149919973","https://openalex.org/W2151178100","https://openalex.org/W2151285111","https://openalex.org/W2152413858","https://openalex.org/W2155197213","https://openalex.org/W2155643164","https://openalex.org/W2161815236","https://openalex.org/W2162778136","https://openalex.org/W2164673344","https://openalex.org/W2164912917","https://openalex.org/W2166509607","https://openalex.org/W2167119720","https://openalex.org/W2169492321","https://openalex.org/W2295371873","https://openalex.org/W2326122757","https://openalex.org/W2399364959","https://openalex.org/W2992013007","https://openalex.org/W4230114837","https://openalex.org/W4230826198","https://openalex.org/W4237564641","https://openalex.org/W4253129203","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W3012465330","https://openalex.org/W2473324117","https://openalex.org/W140515965","https://openalex.org/W2597272008","https://openalex.org/W1980869923","https://openalex.org/W2071079671","https://openalex.org/W2083124879","https://openalex.org/W2136252423","https://openalex.org/W4205445808","https://openalex.org/W2413788504"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-10T09:11:00.788812","created_date":"2016-06-24T00:00:00"}
