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W Courtens

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

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American Journal of Medical Genetics|September 5, 1997
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndromeW Courtens, F Speleman, L Messiaen, et al.
The Journal of Clinical Investigation|July 1, 1994
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitusM J Abramowicz, M Andrien, E Dupont, et al.
American Journal of Medical Genetics|May 30, 1998
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactylyW Courtens, W Tjalma, L Messiaen, et al.
European Journal of Pediatrics|February 7, 1998
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiencyL H Cohen, E Vamos, C Heinrichs, et al.
Human Genetics|December 18, 1998
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversionW Courtens, D Grossman, N Van Roy, et al.
American Journal of Medical Genetics|July 1, 1994
Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studiesW Courtens, M B Petersen, J C Noël, et al.
Clinical Genetics|February 3, 2006
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnosticsL Rooms, E Reyniers, W Wuyts, et al.
Human Mutation|March 17, 2010
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletionsB D'haene, J Nevado, M Pugeat, et al.
Journal of Medical Genetics|September 13, 2005
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 geneK P Hoornaert, C Dewinter, I Vereecke, et al.
Human Molecular Genetics|July 27, 2001
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere, M J Dixon, K W Small, et al.
Pageof 2

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

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
American Journal of Medical Genetics|September 5, 1997
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndromeW Courtens, F Speleman, L Messiaen, et al.
The Journal of Clinical Investigation|July 1, 1994
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitusM J Abramowicz, M Andrien, E Dupont, et al.
American Journal of Medical Genetics|May 30, 1998
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactylyW Courtens, W Tjalma, L Messiaen, et al.
European Journal of Pediatrics|February 7, 1998
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiencyL H Cohen, E Vamos, C Heinrichs, et al.
Human Genetics|December 18, 1998
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversionW Courtens, D Grossman, N Van Roy, et al.
American Journal of Medical Genetics|July 1, 1994
Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studiesW Courtens, M B Petersen, J C Noël, et al.
Clinical Genetics|February 3, 2006
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnosticsL Rooms, E Reyniers, W Wuyts, et al.
Human Mutation|March 17, 2010
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletionsB D'haene, J Nevado, M Pugeat, et al.
Journal of Medical Genetics|September 13, 2005
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 geneK P Hoornaert, C Dewinter, I Vereecke, et al.
Human Molecular Genetics|July 27, 2001
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere, M J Dixon, K W Small, et al.
Pageof 2