Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Raoul C.M. Hennekam

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

American Journal of Human Genetics

English

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

American Journal of Human Genetics

English

Related publications

Peters Plus Syndrome Mutations Disrupt a Noncanonical ER Quality-Control Mechanism

Current Biology

Molecular Biology

Biological Sciences

English

Peters Plus Syndrome: A Recognizable Clinical Entity

Turkish Journal of Pediatrics

English

A Putative Monofunctional Glycosyltransferase Is Expressed in Ralstonia Eutropha.

Journal of Bacteriology

Molecular Biology

English

Prenatal Detection of Peters Plus-Like Syndrome

Turk Jinekoloji ve Obstetrik Dernegi Dergisi

English

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

American Journal of Human Genetics

English

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

English

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

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

American Journal of Human Genetics

English

Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations

Movement Disorders Clinical Practice

English