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Publications by Caroline Lacoste

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

American Journal of Human Genetics

English

Variable Clinical Expression in Patients With Mosaicism forKCNQ2mutations

American Journal of Medical Genetics, Part A

English

Related publications

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