A de Paepe - JoVE Visualize

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Human Genetics|January 1, 1992

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IVA J Richards, J C Lloyd, P Narcisi, et al.

Pediatric Radiology|November 3, 1998

Bruck syndrome: neonatal presentation and natural course in three patientsJ G Leroy, L Nuytinck, A De Paepe, et al.

Genomics|September 21, 2000

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPESE De Baere, Y Fukushima, K Small, et al.

Journal of Medical Genetics|October 22, 2003

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13P J Coucke, M W Wessels, P Van Acker, et al.

Human Genetics|April 1, 1992

Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRYB Van der Auwera, N Van Roy, A De Paepe, et al.

Molecular Genetics and Metabolism|December 14, 2004

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 geneL C Walker, A S Teebi, J C Marini, et al.

Disease Markers|February 18, 2015

Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian populationO Essawi, M Farraj, K De Leeneer, et al.

Prenatal Diagnosis|January 26, 2002

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)B Loeys, L Nuytinck, P Van Acker, et al.

European Journal of Human Genetics : EJHG|January 1, 1996

Refined genetic and physical mapping of BPES type IIL Messiaen, B P Leroy, S De Bie, et al.

Journal of Applied Genetics|October 31, 2009

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variabilityA Jamsheer, C Henggeler, J Wierzba, et al.

Pageof 15

Showing results (91-100 of 142) with videos related to

Sort By:

Pageof 15

Human Genetics|January 1, 1992

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IVA J Richards, J C Lloyd, P Narcisi, et al.

Pediatric Radiology|November 3, 1998

Bruck syndrome: neonatal presentation and natural course in three patientsJ G Leroy, L Nuytinck, A De Paepe, et al.

Genomics|September 21, 2000

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPESE De Baere, Y Fukushima, K Small, et al.

Journal of Medical Genetics|October 22, 2003

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13P J Coucke, M W Wessels, P Van Acker, et al.

Human Genetics|April 1, 1992

Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRYB Van der Auwera, N Van Roy, A De Paepe, et al.

Molecular Genetics and Metabolism|December 14, 2004

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 geneL C Walker, A S Teebi, J C Marini, et al.

Disease Markers|February 18, 2015

Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian populationO Essawi, M Farraj, K De Leeneer, et al.

Prenatal Diagnosis|January 26, 2002

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)B Loeys, L Nuytinck, P Van Acker, et al.

European Journal of Human Genetics : EJHG|January 1, 1996

Refined genetic and physical mapping of BPES type IIL Messiaen, B P Leroy, S De Bie, et al.

Journal of Applied Genetics|October 31, 2009

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variabilityA Jamsheer, C Henggeler, J Wierzba, et al.

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