Clemantine Dimartino

Paris, France

Last Updated: 09/26/2026

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Found 9 publications

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

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

Published: April 08, 2022

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.

Journal: Journal of visualized experiments : JoVE

Published: April 07, 2022

A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.

A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.

Journal: Bone

Published: June 07, 2021

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

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

Published: February 28, 2021

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

Journal: Human molecular genetics

Published: June 29, 2020

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Journal: American journal of human genetics

Published: December 28, 2019

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

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

Published: November 13, 2019

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Journal: Brain : a journal of neurology

Published: July 05, 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Journal: American journal of human genetics

Published: September 08, 2018

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Last Updated: 09/26/2026