(PDF) De novoPHIPpredicted Deleterious Variants Are

De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features

Cold Spring Harbor molecular case studies - United States

doi 10.1101/mcs.a001172

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August 31, 2016

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Cold Spring Harbor Laboratory

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Amanote Research

De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features

Cold Spring Harbor molecular case studies - United States

doi 10.1101/mcs.a001172

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

A Review of the Genomic Analysis of Children Presenting With Developmental Delay/Intellectual Disability and Associated Dysmorphic Features

De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay

De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay

De Novo EIF2AK1 and EIF2AK2 Variants Are Associated With Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

Intellectual Disability and Dysmorphic Features in Male Siblings Arising From a Novel TAF1 Mutation

Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation