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E Legius

Showing results (101-110 of 120) with videos related to

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American Journal of Medical Genetics|July 1, 1990
Restrictive dermopathy with distinct morphological abnormalitiesM Van Hoestenberghe, E Legius, W Vandevoorde, et al.
Clinical Genetics|April 14, 2015
Clinical implementation of NIPT - technical and biological challengesP Brady, N Brison, K Van Den Bogaert, et al.
Human Reproduction (Oxford, England)|February 5, 2011
PGD for a complex chromosomal rearrangement by array comparative genomic hybridizationE Vanneste, C Melotte, T Voet, et al.
European Journal of Human Genetics : EJHG|January 1, 1994
Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?)E Legius, H Cuppens, H Dierick, et al.
Genes, Chromosomes & Cancer|November 12, 2005
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patientsK Wimmer, S Yao, K Claes, et al.
Human Genetics|September 1, 1990
Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian familiesH Cuppens, E Legius, P Cabello, et al.
Human Mutation|March 25, 1999
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceS Marie, H Cuppens, M Heuterspreute, et al.
Human Molecular Genetics|May 18, 2000
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 geneM Veugelers, B D Cat, S Y Muyldermans, et al.
Genomics|July 1, 1992
A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis geneD A Marchuk, R Tavakkol, M R Wallace, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 20, 2005
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiencyJ L K Van Hove, J Steyaert, G Matthijs, et al.
Pageof 12

Showing results (101-110 of 120) with videos related to

Sort By:
Pageof 12
American Journal of Medical Genetics|July 1, 1990
Restrictive dermopathy with distinct morphological abnormalitiesM Van Hoestenberghe, E Legius, W Vandevoorde, et al.
Clinical Genetics|April 14, 2015
Clinical implementation of NIPT - technical and biological challengesP Brady, N Brison, K Van Den Bogaert, et al.
Human Reproduction (Oxford, England)|February 5, 2011
PGD for a complex chromosomal rearrangement by array comparative genomic hybridizationE Vanneste, C Melotte, T Voet, et al.
European Journal of Human Genetics : EJHG|January 1, 1994
Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?)E Legius, H Cuppens, H Dierick, et al.
Genes, Chromosomes & Cancer|November 12, 2005
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patientsK Wimmer, S Yao, K Claes, et al.
Human Genetics|September 1, 1990
Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian familiesH Cuppens, E Legius, P Cabello, et al.
Human Mutation|March 25, 1999
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceS Marie, H Cuppens, M Heuterspreute, et al.
Human Molecular Genetics|May 18, 2000
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 geneM Veugelers, B D Cat, S Y Muyldermans, et al.
Genomics|July 1, 1992
A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis geneD A Marchuk, R Tavakkol, M R Wallace, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 20, 2005
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiencyJ L K Van Hove, J Steyaert, G Matthijs, et al.
Pageof 12