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Publications by Eva Rossier

RAD21 Mutations Cause a Human Cohesinopathy

American Journal of Human Genetics

English

Genetic and Neurodevelopmental Spectrum ofSYNGAP1-associated Intellectual Disability and Epilepsy

Journal of Medical Genetics

English

Related publications

Reply to Mazzeu: Human Mutations inRYKMight Cause Robinow Syndrome

Journal of Biological Chemistry

Molecular Biology

English

Human Mutations in NDE1 Cause Extreme Microcephaly With Lissencephaly

American Journal of Human Genetics

English

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

American Journal of Human Genetics

English

Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

Gastroenterology

Gastroenterology

English

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

American Journal of Human Genetics

English

LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics

English

Mutations in SOX2 Cause Anophthalmia

Nature Genetics

English

NPMc+ Cooperates With Flt3/Itd Mutations to Cause Acute Leukemia Recapitulating Human Disease

Experimental Hematology

Cancer Research

Molecular Biology

English

TNXB Mutations Can Cause Vesicoureteral Reflux

Journal of the American Society of Nephrology : JASN

English