Martin G. Bialer

Medical Genetics | Pediatrics

Nsuh Medical Genetics
1554 Northern Boulevard
Manhasset, NY 11030

Last Updated: 09/26/2026

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Found 19 publications

Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo-obstruction.

Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo-obstruction.

Journal: JPGN reports

Published: February 14, 2024

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Journal: Genome medicine

Published: November 23, 2021

Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect.

Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect.

Journal: Channels (Austin, Tex.)

Published: January 25, 2021

A Rare Presentation of Cardiomyopathy in Pregnancy.

A Rare Presentation of Cardiomyopathy in Pregnancy.

Journal: JACC. Case reports

Published: February 18, 2020

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Journal: Nature communications

Published: May 03, 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Journal: Nature communications

Published: February 17, 2019

A Cryptic Cause of Cardiac Arrest.

A Cryptic Cause of Cardiac Arrest.

Journal: The Journal of emergency medicine

Published: July 12, 2018

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Journal: Nature communications

Published: November 09, 2017

Prenatal sonographic findings in a case of Wolman's disease.

Prenatal sonographic findings in a case of Wolman's disease.

Journal: Journal of clinical ultrasound : JCU

Published: December 14, 2016

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

Journal: Journal of medical genetics

Published: April 06, 2016

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Journal: American journal of human genetics

Published: December 12, 2015

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

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

Published: May 06, 2015

Showing 1-12 of 19

Last Updated: 09/26/2026