Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genetics in medicine : official journal of the American College of Medical Genetics·2020

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Molecular psychiatry·2018

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

Journal of dental research·2016

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Human genetics·2016

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Molecular psychiatry·2016

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Molecular psychiatry·2016

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

Human molecular genetics·2026

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Human molecular genetics·2026

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

Human molecular genetics·2026

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

Human molecular genetics·2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Human molecular genetics·2026

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

Human molecular genetics·2026

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Scientific reports·2026

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

The Lancet. Microbe·2026

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

Frontiers in genetics·2026

A Novel FN1 Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

Journal of clinical medicine·2026

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

HLA·2026

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Molecular syndromology·2026

Related Experiment Videos

Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2

Related Concept Videos

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

Tooth agenesis and orofacial clefting: genetic brothers in arms?

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

A Novel FN1 Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

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Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2

Related Concept Videos

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