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Nicole de Leeuw

Showing results (1-10 of 122) with videos related to

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American Journal of Human Genetics|January 7, 2014
Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndromeNicole de Leeuw, Gunnar Houge
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 7, 2009
A healthy, female chimera with 46,XX/46,XY karyotypeMathijs Binkhorst, Nicole de Leeuw, Barto J Otten
Huisarts En Wetenschap|October 18, 2021
Willem Verhoeven, Elisa Houwink, Nicole de Leeuw, et al.
American Journal of Medical Genetics. Part A|January 27, 2010
Terminal 3p deletions in two families--correlation between molecular karyotype and phenotypePia Pohjola, Nicole de Leeuw, Maila Penttinen, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
A patient with a de novo distal 22q11.2 microdeletion and anxiety disorderWillem Verhoeven, Jos Egger, Han Brunner, et al.
European Journal of Medical Genetics|August 30, 2019
A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndromeWillem M A Verhoeven, Jos I M Egger, Nicole de Leeuw
American Journal of Medical Genetics. Part A|December 15, 2007
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletionRaveen Shahdadpuri, Bert de Vries, Rolph Pfundt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2019
Accurate detection of clinically relevant uniparental disomy from exome sequencing dataKevin Yauy, Nicole de Leeuw, Helger G Yntema, et al.
BMJ Case Reports|September 2, 2019
Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocationNydia Rena Benita Sihombing, Nicole de Leeuw, Hans van Bokhoven, et al.
European Journal of Medical Genetics|December 6, 2011
A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsyWillem M A Verhoeven, Jos I M Egger, Ilse Feenstra, et al.
Pageof 13

Showing results (1-10 of 122) with videos related to

Sort By:
Pageof 13
American Journal of Human Genetics|January 7, 2014
Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndromeNicole de Leeuw, Gunnar Houge
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 7, 2009
A healthy, female chimera with 46,XX/46,XY karyotypeMathijs Binkhorst, Nicole de Leeuw, Barto J Otten
Huisarts En Wetenschap|October 18, 2021
Willem Verhoeven, Elisa Houwink, Nicole de Leeuw, et al.
American Journal of Medical Genetics. Part A|January 27, 2010
Terminal 3p deletions in two families--correlation between molecular karyotype and phenotypePia Pohjola, Nicole de Leeuw, Maila Penttinen, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
A patient with a de novo distal 22q11.2 microdeletion and anxiety disorderWillem Verhoeven, Jos Egger, Han Brunner, et al.
European Journal of Medical Genetics|August 30, 2019
A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndromeWillem M A Verhoeven, Jos I M Egger, Nicole de Leeuw
American Journal of Medical Genetics. Part A|December 15, 2007
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletionRaveen Shahdadpuri, Bert de Vries, Rolph Pfundt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2019
Accurate detection of clinically relevant uniparental disomy from exome sequencing dataKevin Yauy, Nicole de Leeuw, Helger G Yntema, et al.
BMJ Case Reports|September 2, 2019
Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocationNydia Rena Benita Sihombing, Nicole de Leeuw, Hans van Bokhoven, et al.
European Journal of Medical Genetics|December 6, 2011
A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsyWillem M A Verhoeven, Jos I M Egger, Ilse Feenstra, et al.
Pageof 13