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Artikel 81 Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Enthalten in European journal of human genetics Bd. 33, 25.6.2025, Nr. 8, date:8.2025: 989-996
Online Ressource
Artikel 82 Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
Enthalten in Journal of molecular medicine Bd. 99, 18.10.2021, Nr. 12, date:12.2021: 1769-1770
Online Ressource
Artikel 83 Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy
Enthalten in European journal of medical research Bd. 24, 14.9.2019, Nr. 1, date:12.2019: 1-9
Online Ressource
Artikel 84 Cystathionine β-synthase as novel endogenous regulator of lymphangiogenesis via modulating VEGF receptor 2 and 3
Enthalten in Communications biology Bd. 5, 10.9.2022, Nr. 1, date:12.2022: 1-15
Online Ressource
Artikel 85 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
Enthalten in Human genetics Bd. 134, 19.10.2014, Nr. 1, date:1.2015: 97-109
Online Ressource
Artikel 86 De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
Enthalten in Nature genetics Bd. 50, 17.9.2018, Nr. 10, date:10.2018: 1442-1451
Online Ressource
Artikel 87 Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
Enthalten in Human genetics Bd. 143, 20.12.2023, Nr. 1, date:1.2024: 71-84
Online Ressource
Artikel 88 Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt?
Enthalten in Medizinische Genetik Bd. 31, 4.11.2019, Nr. 3, date:11.2019: 335-343
Online Ressource
Artikel 89 Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability
Enthalten in BMC cancer Bd. 19, 10.5.2019, Nr. 1, date:12.2019: 1-6
Online Ressource
Artikel 90 Evidence for genetic overlap between adult onset Still’s disease and hereditary periodic fever syndromes
Enthalten in Rheumatology international Bd. 38, 20.11.2017, Nr. 1, date:1.2018: 111-120
Online Ressource


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