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Publications by Bernard Charroux

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

American Journal of Human Genetics

English

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Borate Transporter SLC4A11 Mutations Cause Both Harboyan Syndrome and Non-Syndromic Corneal Endothelial Dystrophy

Journal of Medical Genetics

English

LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics

English

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

American Journal of Human Genetics

English

Barth Syndrome Mutations That Cause Tafazzin Complex Lability

Journal of Cell Biology

English

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics

English

Reply to Mazzeu: Human Mutations inRYKMight Cause Robinow Syndrome

Journal of Biological Chemistry

Molecular Biology

English

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

American Journal of Human Genetics

English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

English

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

American Journal of Human Genetics

English