Raoul C.M. Hennekam - Concepedia

Author

Raoul C.M. Hennekam

Amsterdam UMC Location University of Amsterdam

Also Known As

R. C. M. Hennekam, Raoul C. M. Hennekam, Raoul C.M. Hennekam, Raoul C.m. Hennekam, Raoul CM Hennekam, Raoul C.M. Hennekam

Publications

554

Citations

H-Index

Concepts

All Affiliations

Amsterdam UMC Location University of Amsterdam University of Amsterdam University of Utah Combined Ophthalmic Research Rotterdam Children's Hospital of Philadelphia

About

Raoul C.M. Hennekam is an author at Amsterdam UMC Location University of Amsterdam specializing in medicine, genetics, and ion channels.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	446
2	Social Sciences	1	1	87
3	Cellular Physiology	1	1	87
4	Molecular Genetics	1	1	166
5	Neuroscience	1	1	87

Raoul C.M. Hennekam

Publications

550

Citations

H-Index

Page 1

	Year	Citations
Cantú Syndrome Is Caused by Mutations in ABCC9 Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsPathogenesisPathology	2012	166
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, The American Journal of Human Genetics Developmental AnomalyClinical DisordersDevelopmental BiologyMendelian DisorderGenetic Disorder	2015	156
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome J Groen, Arturo Andrade, Katja Ritz, Human Molecular Genetics Cardiac MuscleExome SequencingGeneticsNeurotransmissionIdentified Mutation	2014	87
Polytopic anomalies with agenesis of the lower vertebral column Axel Bohring, Susan O. Lewin, James F. Reynolds, American Journal of Medical Genetics	1999	62
Further delineation of the acro-renal-ocular syndrome Cora M. Aalfs, Mary J. van Schooneveld, Estéban M. van Keulen, American Journal of Medical Genetics	1996	42
Congenital hypothalamic hamartoma associated with severe midline defect: A developmental field defect. Report of a case Raoul C.M. Hennekam, Frits A. Beemer, Franka Van Merrienboer, American Journal of Medical Genetics Developmental AnomalyNewborn GirlCraniofacial AnomaliesCleft Lip RepairCongenital Hypothalamic Hamartoma	1986	21
Congenital glaucoma in a child with partial lq duplication and 9p deletion Frank D. Verbraak, Katalin Pogány, Jan-Willem Pilon, Ophthalmic Paediatrics and Genetics Partial DuplicationMendelian DisorderOphthalmologyCytogeneticsGenetic Disorder	1992	16

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