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M C Digilio

Showing results (91-100 of 130) with videos related to

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Journal of Medical Genetics|December 1, 1994
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisationM Gomez-Lira, A Sangalli, P F Pignatti, et al.
European Journal of Pediatrics|December 1, 1995
Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstructionB Marino, M G Gagliardi, M C Digilio, et al.
Journal of Medical Screening|December 29, 2000
Rapid detection of the 35delG mutation in the GJB2 gene in childhood deafnessA Tessa, C Patrono, F M Santorelli, et al.
Journal of Medical Genetics|November 6, 2001
Coeliac disease in Williams syndromeA Giannotti, G Tiberio, M Castro, et al.
Cytogenetic and Genome Research|September 2, 2008
Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormalityC Surace, M C Digilio, A Lombardo, et al.
American Journal of Medical Genetics|July 3, 1995
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8pF Amati, A Mari, R Mingarelli, et al.
Clinical Genetics|August 8, 2009
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplicationL Bernardini, L Sinibaldi, A Capalbo, et al.
Italian Heart Journal : Official Journal of the Italian Federation of Cardiology|June 8, 2001
Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patternsS Anaclerio, B Marino, A Carotti, et al.
Pediatric Radiology|January 1, 1992
Radiographic findings in Wiedemann-Rautenstrauch syndromeM G Obregon, G L Bergami, A Giannotti, et al.
Journal of Pediatric Gastroenterology and Nutrition|April 1, 1993
Down's syndrome and celiac disease: the prevalence of high IgA-antigliadin antibodies and HLA-DR and DQ antigens in trisomy 21M Castro, A Crinò, B Papadatou, et al.
Pageof 13

Showing results (91-100 of 130) with videos related to

Sort By:
Pageof 13
Journal of Medical Genetics|December 1, 1994
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisationM Gomez-Lira, A Sangalli, P F Pignatti, et al.
European Journal of Pediatrics|December 1, 1995
Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstructionB Marino, M G Gagliardi, M C Digilio, et al.
Journal of Medical Screening|December 29, 2000
Rapid detection of the 35delG mutation in the GJB2 gene in childhood deafnessA Tessa, C Patrono, F M Santorelli, et al.
Journal of Medical Genetics|November 6, 2001
Coeliac disease in Williams syndromeA Giannotti, G Tiberio, M Castro, et al.
Cytogenetic and Genome Research|September 2, 2008
Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormalityC Surace, M C Digilio, A Lombardo, et al.
American Journal of Medical Genetics|July 3, 1995
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8pF Amati, A Mari, R Mingarelli, et al.
Clinical Genetics|August 8, 2009
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplicationL Bernardini, L Sinibaldi, A Capalbo, et al.
Italian Heart Journal : Official Journal of the Italian Federation of Cardiology|June 8, 2001
Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patternsS Anaclerio, B Marino, A Carotti, et al.
Pediatric Radiology|January 1, 1992
Radiographic findings in Wiedemann-Rautenstrauch syndromeM G Obregon, G L Bergami, A Giannotti, et al.
Journal of Pediatric Gastroenterology and Nutrition|April 1, 1993
Down's syndrome and celiac disease: the prevalence of high IgA-antigliadin antibodies and HLA-DR and DQ antigens in trisomy 21M Castro, A Crinò, B Papadatou, et al.
Pageof 13