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Last Updated: 10/31/2025

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Found 78 publications

Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.

Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.

Journal: The Journal of biological chemistry
Published: March 27, 2024

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.

Journal: Frontiers in genetics
Published: February 08, 2024

Myhre syndrome: expanding its paediatric phenotypic spectrum.

Myhre syndrome: expanding its paediatric phenotypic spectrum.

Journal: Cardiology in the young
Published: June 16, 2023

Disentangling the complex landscape of sleep-wake disorders with data-driven phenotyping: A study of the Bernese center.

Disentangling the complex landscape of sleep-wake disorders with data-driven phenotyping: A study of the Bernese center.

Journal: European journal of neurology
Published: January 19, 2023

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Journal: HGG advances
Published: December 14, 2021

Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.

Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.

Journal: Human genetics
Published: May 07, 2021

Correspondence on "DOORS syndrome and a recurrent truncating ATP6V1B2 variant" by Beauregard-Lacroix et al.

Correspondence on "DOORS syndrome and a recurrent truncating ATP6V1B2 variant" by Beauregard-Lacroix et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 07, 2021

Reducing the Emergency Department Revolving Door Syndrome for the Poor, Uninsured, and Chronically Ill Patient in Los Angeles: Process Improvement Recommendations from a County Health Program Evaluation.

Reducing the Emergency Department Revolving Door Syndrome for the Poor, Uninsured, and Chronically Ill Patient in Los Angeles: Process Improvement Recommendations from a County Health Program Evaluation.

Journal: Population health management
Published: July 22, 2020

PIGF deficiency causes a phenotype overlapping with DOORS syndrome.

PIGF deficiency causes a phenotype overlapping with DOORS syndrome.

Journal: Human genetics
Published: July 20, 2020

Fgfr3 mutation disrupts chondrogenesis and bone ossification in zebrafish model mimicking CATSHL syndrome partially via enhanced Wnt/β-catenin signaling.

Fgfr3 mutation disrupts chondrogenesis and bone ossification in zebrafish model mimicking CATSHL syndrome partially via enhanced Wnt/β-catenin signaling.

Journal: Theranostics
Published: February 24, 2020

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Journal: American journal of human genetics
Published: February 08, 2019

The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.

The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.

Journal: Scientific reports
Published: January 11, 2019
Showing 1-12 of 78

Last Updated: 10/31/2025