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G Andria

Showing results (31-40 of 137) with videos related to

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European Journal of Pediatrics|May 20, 1998
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on HomocystinuriaR De Franchis, M P Sperandeo, G Sebastio, et al.
American Journal of Medical Genetics|September 17, 1998
Centric fission of chromosome 9 in a boy with trisomy 9pD Concolino, R Cinti, M Moricca, et al.
Journal of Medical Genetics|February 1, 1983
Wildervanck's syndrome with bilateral subluxation of lens and facial paralysisP Strisciuglio, V Raia, A Di Meo, et al.
American Journal of Medical Genetics|April 5, 2000
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasiaN B Pierri, M Lecora, A Passariello, et al.
Journal of Inherited Metabolic Disease|January 1, 1984
Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'G Andria, A Ballabio, G Parenti, et al.
Human Genetics|January 1, 1985
Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiencyA Ballabio, G Parenti, E Napolitano, et al.
American Journal of Medical Genetics|February 1, 1987
Megalocornea and mental retardation syndrome: two new casesE Del Giudice, R Sartorio, A Romano, et al.
Lancet (London, England)|December 23, 1995
Spina bifida, 677T-->C mutation, and role of folateR de Franchis, G Sebastio, C Mandato, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 1, 1982
Sanfilippo B syndrome (MPS III B): altered residual alpha-N-acetylglucosaminidase activity in an unusual sibshipP Di Natale, P Murino, G Pontarelli, et al.
Clinical Dysmorphology|April 1, 1996
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosumV Guzzetta, M Lecora, G Rossi, et al.
Pageof 14

Showing results (31-40 of 137) with videos related to

Sort By:
Pageof 14
European Journal of Pediatrics|May 20, 1998
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on HomocystinuriaR De Franchis, M P Sperandeo, G Sebastio, et al.
American Journal of Medical Genetics|September 17, 1998
Centric fission of chromosome 9 in a boy with trisomy 9pD Concolino, R Cinti, M Moricca, et al.
Journal of Medical Genetics|February 1, 1983
Wildervanck's syndrome with bilateral subluxation of lens and facial paralysisP Strisciuglio, V Raia, A Di Meo, et al.
American Journal of Medical Genetics|April 5, 2000
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasiaN B Pierri, M Lecora, A Passariello, et al.
Journal of Inherited Metabolic Disease|January 1, 1984
Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'G Andria, A Ballabio, G Parenti, et al.
Human Genetics|January 1, 1985
Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiencyA Ballabio, G Parenti, E Napolitano, et al.
American Journal of Medical Genetics|February 1, 1987
Megalocornea and mental retardation syndrome: two new casesE Del Giudice, R Sartorio, A Romano, et al.
Lancet (London, England)|December 23, 1995
Spina bifida, 677T-->C mutation, and role of folateR de Franchis, G Sebastio, C Mandato, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 1, 1982
Sanfilippo B syndrome (MPS III B): altered residual alpha-N-acetylglucosaminidase activity in an unusual sibshipP Di Natale, P Murino, G Pontarelli, et al.
Clinical Dysmorphology|April 1, 1996
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosumV Guzzetta, M Lecora, G Rossi, et al.
Pageof 14