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Edwin Reyniers

Showing results (1-10 of 39) with videos related to

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Human Mutation|September 23, 2006
Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardationLiesbeth Rooms, Edwin Reyniers, R Frank Kooy
Human Mutation|May 10, 2005
Subtelomeric rearrangements in the mentally retarded: a comparison of detection methodsLiesbeth Rooms, Edwin Reyniers, R Frank Kooy
Archives of Iranian Medicine|April 23, 2008
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor geneYousef Shafeghati, Nima Momenin, Taher Esfahani, et al.
American Journal of Human Genetics|May 22, 2012
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndromeGeert Vandeweyer, Nathalie Van der Aa, Edwin Reyniers, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 29, 2016
PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrumAn-Sofie Schoonjans, Marije Meuwissen, Edwin Reyniers, et al.
BMC Bioinformatics|January 7, 2011
CNV-WebStore: online CNV analysis, storage and interpretationGeert Vandeweyer, Edwin Reyniers, Wim Wuyts, et al.
Pediatric Neurology|December 7, 2007
Muscle pain as the only presenting symptom in a girl with dystrophinopathyBerten P Ceulemans, Katrien Storm, Edwin Reyniers, et al.
Human Mutation|September 27, 2002
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?Birgitta Winnepenninckx, Vanessa Errijgers, France Hayez-Delatte, et al.
European Journal of Medical Genetics|June 10, 2019
Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosumSofie Demeulenaere, Diane Beysen, Ilse De Veuster, et al.
American Journal of Medical Genetics. Part A|March 29, 2005
Somatic and gonadal mosaicism in Hutchinson-Gilford progeriaWim Wuyts, Martine Biervliet, Edwin Reyniers, et al.
Pageof 4

Showing results (1-10 of 39) with videos related to

Sort By:
Pageof 4
Human Mutation|September 23, 2006
Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardationLiesbeth Rooms, Edwin Reyniers, R Frank Kooy
Human Mutation|May 10, 2005
Subtelomeric rearrangements in the mentally retarded: a comparison of detection methodsLiesbeth Rooms, Edwin Reyniers, R Frank Kooy
Archives of Iranian Medicine|April 23, 2008
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor geneYousef Shafeghati, Nima Momenin, Taher Esfahani, et al.
American Journal of Human Genetics|May 22, 2012
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndromeGeert Vandeweyer, Nathalie Van der Aa, Edwin Reyniers, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 29, 2016
PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrumAn-Sofie Schoonjans, Marije Meuwissen, Edwin Reyniers, et al.
BMC Bioinformatics|January 7, 2011
CNV-WebStore: online CNV analysis, storage and interpretationGeert Vandeweyer, Edwin Reyniers, Wim Wuyts, et al.
Pediatric Neurology|December 7, 2007
Muscle pain as the only presenting symptom in a girl with dystrophinopathyBerten P Ceulemans, Katrien Storm, Edwin Reyniers, et al.
Human Mutation|September 27, 2002
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?Birgitta Winnepenninckx, Vanessa Errijgers, France Hayez-Delatte, et al.
European Journal of Medical Genetics|June 10, 2019
Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosumSofie Demeulenaere, Diane Beysen, Ilse De Veuster, et al.
American Journal of Medical Genetics. Part A|March 29, 2005
Somatic and gonadal mosaicism in Hutchinson-Gilford progeriaWim Wuyts, Martine Biervliet, Edwin Reyniers, et al.
Pageof 4