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Journal of Medical Genetics|May 1, 1996
Breakpoints in alpha, beta, and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversionsK H Ramesh, R S VermaJournal of Medical Genetics|May 1, 1996
Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISHE Blennow, E TillbergJournal of Medical Genetics|May 1, 1996
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformationR Torra, L Alós, J Ramos, et al.Journal of Medical Genetics|May 1, 1996
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth diseaseA Oterino, F I Montón, V M Cabrera, et al.Journal of Medical Genetics|May 1, 1996
Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3D H Llewellyn, G A Scobie, A J Urquhart, et al.Journal of Medical Genetics|January 1, 1996
Molecular genetics of neurofibromatosis type 1 (NF1)M H Shen, P S Harper, M UpadhyayaJournal of Medical Genetics|January 1, 1996
Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humansE Treacy, C Polychronakos, M Vekemans, et al.Journal of Medical Genetics|January 1, 1996
FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13)J A Crolla, I Cross, N Atkey, et al.Journal of Medical Genetics|January 1, 1996
Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patientsJ M McGaughran, L Gaunt, J Dore, et al.Journal of Medical Genetics|December 1, 1995
Psychological aspects of von Recklinghausen neurofibromatosis (NF1)S E Mouridsen, S A SørensenPageof 649