Ghalib K. Bardai

Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 23 publications

Arthrogryposis With CNS Involvement in AFF3-Related KINSSHIP Syndrome: A Detailed Phenotypic Characterization From a Mexican Patient and Review of the Literature.

Arthrogryposis With CNS Involvement in AFF3-Related KINSSHIP Syndrome: A Detailed Phenotypic Characterization From a Mexican Patient and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: May 27, 2026

Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders.

Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders.

Journal: International journal of molecular sciences

Published: February 08, 2026

FLNA Variants Related to Melnick-Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review.

FLNA Variants Related to Melnick-Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review.

Journal: American journal of medical genetics. Part A

Published: March 04, 2025

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss-of-Function Missense Variant in NPR3.

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss-of-Function Missense Variant in NPR3.

Journal: American journal of medical genetics. Part A

Published: December 14, 2024

RNA-first Approach Identifies Deep Intronic PHEX Variants in X-linked Hypophosphatemic Rickets.

RNA-first Approach Identifies Deep Intronic PHEX Variants in X-linked Hypophosphatemic Rickets.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 15, 2024

RNA Sequencing of Urine-Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta.

RNA Sequencing of Urine-Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: February 27, 2023

Effect of sclerostin inactivation in a mouse model of severe dominant osteogenesis imperfecta.

Effect of sclerostin inactivation in a mouse model of severe dominant osteogenesis imperfecta.

Journal: Scientific reports

Published: November 18, 2022

Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry.

Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry.

Journal: BMJ open

Published: October 28, 2022

Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.

Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.

Journal: Bone

Published: February 04, 2022

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

Journal: Genes

Published: June 18, 2021

Calvaria Bone Transcriptome in Mouse Models of Osteogenesis Imperfecta.

Calvaria Bone Transcriptome in Mouse Models of Osteogenesis Imperfecta.

Journal: International journal of molecular sciences

Published: April 07, 2021

Muscle transcriptome in mouse models of osteogenesis imperfecta.

Muscle transcriptome in mouse models of osteogenesis imperfecta.

Journal: Bone

Published: February 24, 2021

Showing 1-12 of 23

Last Updated: 09/26/2026