Nissan V. Baratang

Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 13 publications

Fibronectin isoforms promote postnatal skeletal development.

Fibronectin isoforms promote postnatal skeletal development.

Journal: Matrix biology : journal of the International Society for Matrix Biology

Published: April 11, 2024

Leveraging interacting signaling pathways to robustly improve the quality and yield of human pluripotent stem cell-derived hepatoblasts and hepatocytes.

Leveraging interacting signaling pathways to robustly improve the quality and yield of human pluripotent stem cell-derived hepatoblasts and hepatocytes.

Journal: Stem cell reports

Published: August 10, 2020

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

Journal: Journal of inherited metabolic disease

Published: March 11, 2020

A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.

A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.

Journal: European journal of medical genetics

Published: August 14, 2019

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Journal: American journal of human genetics

Published: May 29, 2019

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.

Journal: Molecular genetics & genomic medicine

Published: March 04, 2019

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

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Journal: American journal of human genetics

Published: August 10, 2018

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

Journal: Bone

Published: July 09, 2018

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.

Journal: Clinical genetics

Published: April 20, 2018

Hot water epilepsy and SYN1 variants.

Hot water epilepsy and SYN1 variants.

Journal: Epilepsia

Published: March 17, 2018

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Journal: American journal of human genetics

Published: March 06, 2018

Showing 1-12 of 13

Last Updated: 09/26/2026