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Clinical Genetics
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November 13, 2010
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation
A Fiumara, R Barone, A Arena, et al.
American Journal of Medical Genetics
|
September 1, 1987
Diprosopus with associated malformations: report of two cases
L Pavone, G Camera, S Grasso, et al.
Ophthalmic Paediatrics and Genetics
|
August 1, 1986
Acrofacial dysostosis of Nager and ocular abnormalities
L Pavone, F Mollica, G Pero, et al.
Pediatric Dermatology
|
November 1, 1987
Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen
R Rizzo, M B Contri, G Micali, et al.
Thrombosis and Haemostasis
|
October 1, 1996
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I
A Fiumara, R Barone, P Buttitta, et al.
American Journal of Medical Genetics
|
June 1, 1989
Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields
L Pavone, D Viljoen, S Ardito, et al.
Minerva Pediatrica
|
October 2, 2009
Recurrent peptic ulcer disease in a pediatric patient with type 1 neurofibromatosis and primary ciliary dyskinesia
E Lionetti, R Francavilla, M Ruggieri, et al.
Journal of Neurology
|
October 1, 1996
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I
L Pavone, A Fiumara, R Barone, et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|
March 1, 1993
[Hypertrophic cardiomyopathy (probably secondary) in an infant with Stickler's syndrome. The physiopathological aspects]
G Distefano, R Falsaperla, P Sciacca, et al.
American Journal of Medical Genetics
|
August 22, 1997
Familial broad terminal phalanges with one individual showing additional anomalies
L Pavone, G Sorge, V Pavone, et al.
Page
of 17
Search research articles
Search
Showing results (121-130 of 165) with videos related to
Sort By:
Page
of 17
Clinical Genetics
|
November 13, 2010
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation
A Fiumara, R Barone, A Arena, et al.
American Journal of Medical Genetics
|
September 1, 1987
Diprosopus with associated malformations: report of two cases
L Pavone, G Camera, S Grasso, et al.
Ophthalmic Paediatrics and Genetics
|
August 1, 1986
Acrofacial dysostosis of Nager and ocular abnormalities
L Pavone, F Mollica, G Pero, et al.
Pediatric Dermatology
|
November 1, 1987
Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen
R Rizzo, M B Contri, G Micali, et al.
Thrombosis and Haemostasis
|
October 1, 1996
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I
A Fiumara, R Barone, P Buttitta, et al.
American Journal of Medical Genetics
|
June 1, 1989
Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields
L Pavone, D Viljoen, S Ardito, et al.
Minerva Pediatrica
|
October 2, 2009
Recurrent peptic ulcer disease in a pediatric patient with type 1 neurofibromatosis and primary ciliary dyskinesia
E Lionetti, R Francavilla, M Ruggieri, et al.
Journal of Neurology
|
October 1, 1996
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I
L Pavone, A Fiumara, R Barone, et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|
March 1, 1993
[Hypertrophic cardiomyopathy (probably secondary) in an infant with Stickler's syndrome. The physiopathological aspects]
G Distefano, R Falsaperla, P Sciacca, et al.
American Journal of Medical Genetics
|
August 22, 1997
Familial broad terminal phalanges with one individual showing additional anomalies
L Pavone, G Sorge, V Pavone, et al.
Page
of 17