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Last Updated: 01/07/2026

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Found 115 publications

Anaesthetic management of a child with suspected Opitz-Kaveggia syndrome.

Anaesthetic management of a child with suspected Opitz-Kaveggia syndrome.

Journal: Indian journal of anaesthesia
Published: May 23, 2024

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Journal: American journal of medical genetics. Part A
Published: April 30, 2024

Novel characterization of CASK variant c.1963 A>G (p.Asn655Asp) through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report.

Novel characterization of CASK variant c.1963 A>G (p.Asn655Asp) through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report.

Journal: Case reports in women's health
Published: December 16, 2023

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Journal: Journal of human genetics
Published: December 09, 2022

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Journal: American journal of medical genetics. Part A
Published: May 05, 2022

Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.

Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.

Journal: BioMed research international
Published: November 02, 2021

Eye and ocular adnexa manifestations of MED12-related disorders.

Eye and ocular adnexa manifestations of MED12-related disorders.

Journal: Ophthalmic genetics
Published: October 21, 2021

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.

Journal: BMC medical genomics
Published: September 03, 2021

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.

Journal: Genes
Published: June 22, 2021

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

Journal: Genes
Published: April 02, 2021

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

Journal: Italian journal of pediatrics
Published: March 10, 2021

Emerging role of non-coding RNA in health and disease.

Emerging role of non-coding RNA in health and disease.

Journal: Metabolic brain disease
Published: February 07, 2021
Showing 1-12 of 115

Last Updated: 01/07/2026