Philippe Kien-Van

Nimes, France

Last Updated: 09/26/2026

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Found 38 publications

High-throughput exome sequencing in prenatal diagnosis : indications, benefits, and limitations

High-throughput exome sequencing in prenatal diagnosis : indications, benefits, and limitations

Journal: Revue medicale suisse

Published: July 02, 2026

Cardiogenetics in clinical practice : challenges, indications, and perspectives

Cardiogenetics in clinical practice : challenges, indications, and perspectives

Journal: Revue medicale suisse

Published: July 02, 2026

When kidney disease is genetic: clues for the primary care physician

When kidney disease is genetic: clues for the primary care physician

Journal: Revue medicale suisse

Published: February 27, 2026

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Journal: Clinical genetics

Published: December 03, 2025

Marfan syndrome and related disorders

Marfan syndrome and related disorders

Journal: Revue medicale suisse

Published: April 17, 2025

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics

Published: January 23, 2025

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Journal: Journal of medical genetics

Published: August 08, 2022

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.

Journal: Journal of medical genetics

Published: July 04, 2022

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

Journal: Prenatal diagnosis

Published: September 03, 2021

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

Journal: Molecular genetics & genomic medicine

Published: April 20, 2021

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

Journal: Clinical genetics

Published: August 24, 2020

Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

Journal: European journal of human genetics : EJHG

Published: April 10, 2020

Showing 1-12 of 38

Last Updated: 09/26/2026