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  • 1-10 of  50 results for ""Neurodevelopmental Disorders genetics""
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Academic Journal

CUX1-related neurodevelopmental disorder:deep insights into phenotype-genotype spectrum and underlying pathology

Subjects: Adult; Animals; Humans

  • Source: Oppermann , H , Marcos-Grañeda , E , Weiss , L A , Gurnett , C A , Jelsig , A M , Vineke , S H , Isidor , B , Mercier , S , Magnussen , K , Zacher , P , Hashim , M , Pagnamenta , A T , Race , S ,

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Academic Journal

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Subjects: Medical Clinic; Institute of Medical Genetics; Adaptive Brain Circuits in Development and Learning (AdaBD)

  • Source: Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl;

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Academic Journal

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Subjects: epilepsy; intellectual disability; language impairement

  • Source: Christensen , M B , Levy , A M , Mohammadi , N A , Niceta , M , Kaiyrzhanov , R , Dentici , M L , Al Alam , C , Alesi , V , Benoit , V , Bhatia , K P , Bierhals , T , Boßelmann , C M , Buratti , J ,

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Academic Journal

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

Subjects: FIBCD1; extracellular matrix; genetics

  • Source: Fell , C W , Hagelkruys , A , Cicvaric , A , Horrer , M , Liu , L , Li , J S S , Stadlmann , J , Polyansky , A A , Mereiter , S , Tejada , M A , Kokotović , T , Achuta , V S , Scaramuzza , A , Twyman

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Academic Journal

Rare coding variants in ten genes confer substantial risk for schizophrenia

Subjects: Exome; Genetic Predisposition to Disease/genetics; Humans

  • Source: Singh , T , Poterba , T , Curtis , D , Akil , H , Al Eissa , M , Barchas , J D , Bass , N , Bigdeli , T B , Breen , G , Bromet , E J , Buckley , P F , Bunney , W E , Bybjerg-Grauholm , J , Byerley , W

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Academic Journal

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

Subjects: Intellectual disability; Neurotransmission; Synapse

  • Source: Melland , H , Bumbak , F , Kolesnik-Taylor , A , Ng-Cordell , E , John , A , Constantinou , P , Joss , S , Larsen , M , Fagerberg , C , Laulund , L W , Thies , J , Emslie , F , Willemsen , M ,

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Academic Journal

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Subjects: Autism; ClinGen; Gene–disease validity

  • Source: https://inserm.hal.science/inserm-03816347 ; 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩.

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  • 1-10 of  50 results for ""Neurodevelopmental Disorders genetics""