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T Kleefstra

Showing results (31-40 of 46) with videos related to

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Journal of Medical Genetics|September 20, 2005
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGHD Lugtenberg, A P M de Brouwer, T Kleefstra, et al.
Molecular Psychiatry|February 25, 2015
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDB W M van Bon, B P Coe, R Bernier, et al.
Human Genetics|November 17, 2016
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autismNuria C Bramswig, H-J Lüdecke, M Pettersson, et al.
Nature Communications|October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disabilityM R F Reijnders, M Kousi, G M van Woerden, et al.
Molecular Syndromology|December 6, 2011
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsJ Wincent, D L Bruno, B W M van Bon, et al.
Clinical Genetics|December 15, 2017
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansionA T G Chiu, S L C Pei, C C Y Mak, et al.
Clinical Genetics|February 3, 2018
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further reviewW M R van den Akker, I Brummelman, L M Martis, et al.
Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.
Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
Human Genetics|December 12, 2013
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeR S Møller, L R Jensen, S M Maas, et al.
Pageof 5

Showing results (31-40 of 46) with videos related to

Sort By:
Pageof 5
Journal of Medical Genetics|September 20, 2005
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGHD Lugtenberg, A P M de Brouwer, T Kleefstra, et al.
Molecular Psychiatry|February 25, 2015
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDB W M van Bon, B P Coe, R Bernier, et al.
Human Genetics|November 17, 2016
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autismNuria C Bramswig, H-J Lüdecke, M Pettersson, et al.
Nature Communications|October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disabilityM R F Reijnders, M Kousi, G M van Woerden, et al.
Molecular Syndromology|December 6, 2011
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsJ Wincent, D L Bruno, B W M van Bon, et al.
Clinical Genetics|December 15, 2017
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansionA T G Chiu, S L C Pei, C C Y Mak, et al.
Clinical Genetics|February 3, 2018
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further reviewW M R van den Akker, I Brummelman, L M Martis, et al.
Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.
Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
Human Genetics|December 12, 2013
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeR S Møller, L R Jensen, S M Maas, et al.
Pageof 5