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Edwin Reyniers

Showing results (11-20 of 39) with videos related to

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American Journal of Medical Genetics. Part A|January 8, 2005
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 geneWim Wuyts, Edwin Reyniers, Chantal Ceuterick, et al.
Annales De Genetique|March 31, 2004
Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardationLiesbeth Rooms, Edwin Reyniers, Rob van Luijk, et al.
European Journal of Medical Genetics|December 2, 2017
A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndromeMatthew Jensen, R Frank Kooy, Tony J Simon, et al.
Clinical Genetics|October 22, 2024
RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial GestaltJessica Rosenblum, Diane Beysen, Anna C Jansen, et al.
Frontiers in Neurology|May 10, 2021
Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an ExampleDiane Beysen, Chania De Cordt, Charlotte Dielman, et al.
American Journal of Medical Genetics|September 20, 2002
Family MRX9 revisited: further evidence for locus heterogeneity in MRXBirgitta Winnepenninckx, Vanessa Errijgers, Edwin Reyniers, et al.
European Journal of Medical Genetics|February 21, 2006
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and reviewWinnie Courtens, Wim Wuyts, Stefaan Scheers, et al.
Autism Research : Official Journal of the International Society for Autism Research|June 13, 2012
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2Nathalie Van der Aa, Geert Vandeweyer, Edwin Reyniers, et al.
American Journal of Medical Genetics. Part A|April 12, 2005
Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotypeYolande van Bever, Liesbeth Rooms, Annick Laridon, et al.
Clinical Dysmorphology|September 6, 2007
A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and reviewWinnie Courtens, Jan Wauters, Marek Wojciechowski, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|January 8, 2005
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 geneWim Wuyts, Edwin Reyniers, Chantal Ceuterick, et al.
Annales De Genetique|March 31, 2004
Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardationLiesbeth Rooms, Edwin Reyniers, Rob van Luijk, et al.
European Journal of Medical Genetics|December 2, 2017
A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndromeMatthew Jensen, R Frank Kooy, Tony J Simon, et al.
Clinical Genetics|October 22, 2024
RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial GestaltJessica Rosenblum, Diane Beysen, Anna C Jansen, et al.
Frontiers in Neurology|May 10, 2021
Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an ExampleDiane Beysen, Chania De Cordt, Charlotte Dielman, et al.
American Journal of Medical Genetics|September 20, 2002
Family MRX9 revisited: further evidence for locus heterogeneity in MRXBirgitta Winnepenninckx, Vanessa Errijgers, Edwin Reyniers, et al.
European Journal of Medical Genetics|February 21, 2006
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and reviewWinnie Courtens, Wim Wuyts, Stefaan Scheers, et al.
Autism Research : Official Journal of the International Society for Autism Research|June 13, 2012
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2Nathalie Van der Aa, Geert Vandeweyer, Edwin Reyniers, et al.
American Journal of Medical Genetics. Part A|April 12, 2005
Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotypeYolande van Bever, Liesbeth Rooms, Annick Laridon, et al.
Clinical Dysmorphology|September 6, 2007
A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and reviewWinnie Courtens, Jan Wauters, Marek Wojciechowski, et al.
Pageof 4