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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.American Journal of Medical Genetics|January 8, 1999
Expression of the RET proto-oncogene in human embryosT Attié-Bitach, M Abitbol, M Gérard, et al.Human Molecular Genetics|November 13, 1998
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophyP Burlet, C Huber, S Bertrandy, et al.Journal of Neurosurgery|March 6, 1999
Clinical variability in patients with Apert's syndromeE Lajeunie, R Cameron, V El Ghouzzi, et al.American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.Journal of Medical Genetics|March 2, 1999
A new lethal syndrome of exomphalos, short limbs, and macrogonadismL Faivre, A L Delezoide, F Narcy, et al.American Journal of Medical Genetics|June 27, 2000
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndromeA L Tellier, J Amiel, A L Delezoide, et al.Molecular Genetics and Metabolism|November 3, 2006
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome familiesC Bouchet, S Vuillaumier-Barrot, M Gonzales, et al.Prenatal Diagnosis|June 22, 2000
Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann featuresS Fert-Ferrer, A Guichet, J Tantau, et al.Genomics|August 22, 2000
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterningM Guipponi, K Brunschwig, Z Chamoun, et al.Pageof 8