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Showing results (271-280 of 289) with videos related to

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Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
European Journal of Medical Genetics|July 29, 2009
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal casesB Bessières-Grattagliano, B Foliguet, L Devisme, 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.
American Journal of Human Genetics|April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brainR L Touraine, T Attié-Bitach, E Manceau, et al.
Prenatal Diagnosis|February 4, 2015
Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasmaA Alberti, L J Salomon, M Le Lorc'h, et al.
European Journal of Human Genetics : EJHG|May 30, 2001
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardationL Colleaux, M Rio, S Heuertz, et al.
Pageof 29

Showing results (271-280 of 289) with videos related to

Sort By:
Pageof 29
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
European Journal of Medical Genetics|July 29, 2009
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal casesB Bessières-Grattagliano, B Foliguet, L Devisme, 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.
American Journal of Human Genetics|April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brainR L Touraine, T Attié-Bitach, E Manceau, et al.
Prenatal Diagnosis|February 4, 2015
Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasmaA Alberti, L J Salomon, M Le Lorc'h, et al.
European Journal of Human Genetics : EJHG|May 30, 2001
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardationL Colleaux, M Rio, S Heuertz, et al.
Pageof 29