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Neurology
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July 1, 1988
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides
S Di Donato, B Garavaglia, P Strisciuglio, et al.
Clinical Genetics
|
June 1, 1979
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship
G Andria, P Di Natale, E Del Giudice, et al.
Acta Hepato-Gastroenterologica
|
October 1, 1977
Brush border peptidases and arylamidases in the experimental blind loop syndrome of the rat
G Mazzacca, S Musella, G Andria, et al.
Neuropediatrics
|
April 29, 1998
Detection of subclinical central nervous system abnormalities in two patients with mucolipidosis III by the use of motor and somatosensory evoked potentials
E Toscano, A Perretti, P Balbi, et al.
American Journal of Human Genetics
|
April 29, 1998
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata
A Daniele, G Parenti, M d'Addio, et al.
Neuropediatrics
|
December 19, 2003
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature
M Rossi, R Guerrini, W B Dobyns, et al.
Clinical Dysmorphology
|
April 1, 1995
Immunological disorder and Hirschsprung disease in round femoral inferior epiphysis dysplasia
M Lecora, G Parenti, E Iaccarino, et al.
Neuropediatrics
|
November 1, 1983
Prolonged Q-T interval syndrome presenting as idiopathic epilepsy
C Pignata, V Farina, G Andria, et al.
Clinical Genetics
|
March 19, 2013
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype
G Cappuccio, V M Ginocchio, A Maffè, et al.
Pediatric Radiology
|
January 1, 1985
Short fourth metacarpal in homocystinuria
O Tamburrini, A Bartolomeo-De Iuri, G Andria, et al.
Page
of 14
Search research articles
Search
Showing results (41-50 of 137) with videos related to
Sort By:
Page
of 14
Neurology
|
July 1, 1988
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides
S Di Donato, B Garavaglia, P Strisciuglio, et al.
Clinical Genetics
|
June 1, 1979
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship
G Andria, P Di Natale, E Del Giudice, et al.
Acta Hepato-Gastroenterologica
|
October 1, 1977
Brush border peptidases and arylamidases in the experimental blind loop syndrome of the rat
G Mazzacca, S Musella, G Andria, et al.
Neuropediatrics
|
April 29, 1998
Detection of subclinical central nervous system abnormalities in two patients with mucolipidosis III by the use of motor and somatosensory evoked potentials
E Toscano, A Perretti, P Balbi, et al.
American Journal of Human Genetics
|
April 29, 1998
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata
A Daniele, G Parenti, M d'Addio, et al.
Neuropediatrics
|
December 19, 2003
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature
M Rossi, R Guerrini, W B Dobyns, et al.
Clinical Dysmorphology
|
April 1, 1995
Immunological disorder and Hirschsprung disease in round femoral inferior epiphysis dysplasia
M Lecora, G Parenti, E Iaccarino, et al.
Neuropediatrics
|
November 1, 1983
Prolonged Q-T interval syndrome presenting as idiopathic epilepsy
C Pignata, V Farina, G Andria, et al.
Clinical Genetics
|
March 19, 2013
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype
G Cappuccio, V M Ginocchio, A Maffè, et al.
Pediatric Radiology
|
January 1, 1985
Short fourth metacarpal in homocystinuria
O Tamburrini, A Bartolomeo-De Iuri, G Andria, et al.
Page
of 14