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La Radiologia Medica
|
December 1, 1984
[Bone changes in homocystinuria in childhood]
O Tamburrini, A Bartolomeo-De Iuri, G Andria, et al.
Human Genetics
|
June 2, 2006
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome)
G R D Villani, G Pontarelli, G Kotroni, et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia
|
May 15, 2003
[Anderson-Fabry's disease: diagnostic problems, therapeutic relevance, and clinical experience in the treatment of the disease with enzyme replacement therapy in nephropathic patients]
B Cianciaruso, A Pisani, M V Andreucci, et al.
American Journal of Medical Genetics
|
December 18, 2001
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter
D De Brasi, E Rossi, S Giglio, et al.
Neuropediatrics
|
April 25, 2000
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder
E Toscano, R della Casa, S Mardy, et al.
Journal of Medical Genetics
|
June 3, 1999
Cloverleaf skull anomaly and de novo trisomy 4p
D de Brasi, L Perone, P di Micco, et al.
Thrombosis and Haemostasis
|
November 1, 2000
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia
R de Franchis, I Fermo, G Mazzola, et al.
Clinical Genetics
|
July 1, 1988
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene
A Ballabio, G Parenti, R Carrozzo, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
February 20, 2004
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs
D Melis, G Parenti, R Della Casa, et al.
American Journal of Physiology. Cell Physiology
|
November 18, 2000
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects
V Dall'Asta, O Bussolati, R Sala, et al.
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of 14
Search research articles
Search
Showing results (71-80 of 137) with videos related to
Sort By:
Page
of 14
La Radiologia Medica
|
December 1, 1984
[Bone changes in homocystinuria in childhood]
O Tamburrini, A Bartolomeo-De Iuri, G Andria, et al.
Human Genetics
|
June 2, 2006
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome)
G R D Villani, G Pontarelli, G Kotroni, et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia
|
May 15, 2003
[Anderson-Fabry's disease: diagnostic problems, therapeutic relevance, and clinical experience in the treatment of the disease with enzyme replacement therapy in nephropathic patients]
B Cianciaruso, A Pisani, M V Andreucci, et al.
American Journal of Medical Genetics
|
December 18, 2001
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter
D De Brasi, E Rossi, S Giglio, et al.
Neuropediatrics
|
April 25, 2000
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder
E Toscano, R della Casa, S Mardy, et al.
Journal of Medical Genetics
|
June 3, 1999
Cloverleaf skull anomaly and de novo trisomy 4p
D de Brasi, L Perone, P di Micco, et al.
Thrombosis and Haemostasis
|
November 1, 2000
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia
R de Franchis, I Fermo, G Mazzola, et al.
Clinical Genetics
|
July 1, 1988
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene
A Ballabio, G Parenti, R Carrozzo, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
February 20, 2004
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs
D Melis, G Parenti, R Della Casa, et al.
American Journal of Physiology. Cell Physiology
|
November 18, 2000
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects
V Dall'Asta, O Bussolati, R Sala, et al.
Page
of 14