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S Lyonnet

Showing results (191-200 of 223) with videos related to

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European Journal of Human Genetics : EJHG|November 28, 2000
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicismJ Amiel, S Audollent, D Joly, et al.
Journal of Medical Genetics|April 10, 2009
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)S Romano, F Bajolle, V Valayannopoulos, et al.
Nature Genetics|August 1, 1993
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10S Lyonnet, A Bolino, A Pelet, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
Journal of Medical Genetics|July 15, 2006
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disordersM-L Jacquemont, D Sanlaville, R Redon, et al.
Journal of Medical Genetics|April 16, 2002
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardationM Rio, F Molinari, S Heuertz, et al.
American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.
Journal of Medical Genetics|May 1, 2007
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletionsJ Andrieux, C Villenet, S Quief, et al.
Clinical Genetics|July 16, 2004
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardationG Borck, M Rio, D Sanlaville, et al.
Pageof 23

Showing results (191-200 of 223) with videos related to

Sort By:
Pageof 23
European Journal of Human Genetics : EJHG|November 28, 2000
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicismJ Amiel, S Audollent, D Joly, et al.
Journal of Medical Genetics|April 10, 2009
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)S Romano, F Bajolle, V Valayannopoulos, et al.
Nature Genetics|August 1, 1993
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10S Lyonnet, A Bolino, A Pelet, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
Journal of Medical Genetics|July 15, 2006
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disordersM-L Jacquemont, D Sanlaville, R Redon, et al.
Journal of Medical Genetics|April 16, 2002
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardationM Rio, F Molinari, S Heuertz, et al.
American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.
Journal of Medical Genetics|May 1, 2007
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletionsJ Andrieux, C Villenet, S Quief, et al.
Clinical Genetics|July 16, 2004
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardationG Borck, M Rio, D Sanlaville, et al.
Pageof 23