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T Kleefstra

Showing results (11-20 of 46) with videos related to

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Clinical Genetics|September 7, 2005
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutationT Kleefstra, E H Rosenberg, G S Salomons, et al.
Journal of Intellectual Disability Research : JIDR|February 7, 2019
Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndromeL C M van Dongen, P A M Wingbermühle, W M van der Veld, et al.
Journal of Genetic Counseling|April 22, 2016
Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare DiseasesLotte Krabbenborg, L E L M Vissers, J Schieving, et al.
Human Genetics|October 5, 2016
Tooth agenesis and orofacial clefting: genetic brothers in arms?M Phan, F Conte, K D Khandelwal, et al.
American Journal of Medical Genetics. Part A|March 23, 2005
Renpenning syndrome comes into focusRoger E Stevenson, C W Bennett, F Abidi, et al.
Clinical Genetics|June 26, 2002
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastiaT Kleefstra, H G Yntema, A R Oudakker, et al.
Hormone Research in Paediatrics|April 3, 2015
Short Stature in KBG Syndrome: First Responses to Growth Hormone TreatmentNele Reynaert, C W Ockeloen, L Sävendahl, et al.
Clinical Genetics|September 14, 2007
Pure subtelomeric microduplications as a cause of mental retardationE M Ruiter, D A Koolen, T Kleefstra, et al.
Clinical Genetics|January 12, 2016
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrumS Jansen, T Kleefstra, M H Willemsen, et al.
Clinical Genetics|November 19, 2011
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamicsR De Filippis, L Pancrazi, K Bjørgo, et al.
Pageof 5

Showing results (11-20 of 46) with videos related to

Sort By:
Pageof 5
Clinical Genetics|September 7, 2005
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutationT Kleefstra, E H Rosenberg, G S Salomons, et al.
Journal of Intellectual Disability Research : JIDR|February 7, 2019
Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndromeL C M van Dongen, P A M Wingbermühle, W M van der Veld, et al.
Journal of Genetic Counseling|April 22, 2016
Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare DiseasesLotte Krabbenborg, L E L M Vissers, J Schieving, et al.
Human Genetics|October 5, 2016
Tooth agenesis and orofacial clefting: genetic brothers in arms?M Phan, F Conte, K D Khandelwal, et al.
American Journal of Medical Genetics. Part A|March 23, 2005
Renpenning syndrome comes into focusRoger E Stevenson, C W Bennett, F Abidi, et al.
Clinical Genetics|June 26, 2002
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastiaT Kleefstra, H G Yntema, A R Oudakker, et al.
Hormone Research in Paediatrics|April 3, 2015
Short Stature in KBG Syndrome: First Responses to Growth Hormone TreatmentNele Reynaert, C W Ockeloen, L Sävendahl, et al.
Clinical Genetics|September 14, 2007
Pure subtelomeric microduplications as a cause of mental retardationE M Ruiter, D A Koolen, T Kleefstra, et al.
Clinical Genetics|January 12, 2016
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrumS Jansen, T Kleefstra, M H Willemsen, et al.
Clinical Genetics|November 19, 2011
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamicsR De Filippis, L Pancrazi, K Bjørgo, et al.
Pageof 5