Norbert F. Ajeawung

Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 22 publications

Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches.

Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches.

Journal: European journal of human genetics : EJHG

Published: May 30, 2024

The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.

The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.

Journal: Genes

Published: June 26, 2023

Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 16, 2020

DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 06, 2020

Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene.

Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene.

Journal: Frontiers in neurology

Published: April 30, 2020

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

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 16, 2019

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.

Journal: American journal of human genetics

Published: September 07, 2018

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 05, 2018

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Journal: European journal of human genetics : EJHG

Published: May 12, 2017

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Journal: American journal of human genetics

Published: April 25, 2017

Showing 1-12 of 22

Last Updated: 09/26/2026