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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 1, 1994
[Brachyolmia at autosomal recessive transmission]H Soua, N Sassi, L Karboul, et al.Human Genetics|December 1, 1988
Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosomeS Szpiro-Tapia, A Sefiani, M Guilloud-Bataille, et al.Annales De Pediatrie|June 1, 1989
[Hypoplasia of cartilage and hair with combined immune deficiency]H Rubie, D Graber, A Fischer, 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|June 1, 1996
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasiaG A Wallis, B Rash, B Sykes, 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.The Biochemical Journal|May 1, 1995
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationshipsJ Bonaventure, L Cohen-Solal, P Ritvaniemi, 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 29