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Publications by JM Rozet

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by Mutations in the IFT140 Gene

English

Mutations of IFT81, Encoding an IFT-B Core Protein, as a Rare Cause of a Ciliopathy

English

Related publications

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

American Journal of Human Genetics

English

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

American Journal of Human Genetics

English

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

American Journal of Human Genetics

English

Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease Caused by LMNA Gene Mutations

Ageing Research Reviews

Molecular Biology

English

A Human Immunodeficiency Caused by Mutations in the PIK3R1 Gene

Journal of Clinical Investigation

English

Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

American Journal of Human Genetics

English

Hereditary Spastic Paraplegia Caused by Mutations in the SPG4 Gene

European Journal of Human Genetics

English

Prune Belly Syndrome in Surviving Males Can Be Caused by Hemizygous Missense Mutations in the X-Linked Filamin a Gene

BMC Medical Genetics

English

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy With Deafness, Is Caused by Mutations in C20orf54

American Journal of Human Genetics

English