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American Journal of Medical Genetics
|
December 31, 1997
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene
G Parenti, P Buttitta, G Meroni, et al.
Journal of Inherited Metabolic Disease
|
November 5, 1997
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
V Guzzetta, G Bonapace, I Dianzani, et al.
International Journal of Molecular Medicine
|
November 13, 2003
Telomerase in intracranial meningiomas
L Boldrini, S Pistolesi, S Gisfredi, et al.
Molecular Aspects of Medicine
|
January 1, 1994
An updating of the biochemical function of coenzyme Q in mitochondria
G Lenaz, R Fato, C Castelluccio, et al.
Neurological Research
|
September 1, 1984
Extra-intracranial arterial bypass in typical carotid reversible ischaemic deficits: long-term follow-up in 100 patients
F Reale, E Benericetti, L Benvenuti, et al.
Minerva Pediatrica
|
February 21, 2013
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype
V De Clemente, G Vitiello, F Imperati, et al.
American Journal of Medical Genetics
|
July 3, 1995
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
G Parenti, M G Rizzolo, M Ghezzi, et al.
The Biochemical Journal
|
October 1, 1995
Major changes in complex I activity in mitochondria from aged rats may not be detected by direct assay of NADH:coenzyme Q reductase
M L Genova, C Castelluccio, R Fato, et al.
Molecular Genetics and Metabolism
|
June 27, 2002
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene
S Bisanzi, A Morrone, M A Donati, et al.
The Histochemical Journal
|
January 1, 1988
Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor
R Willemsen, M Kroos, A T Hoogeveen, et al.
Page
of 23
Search research articles
Search
Showing results (171-180 of 226) with videos related to
Sort By:
Page
of 23
American Journal of Medical Genetics
|
December 31, 1997
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene
G Parenti, P Buttitta, G Meroni, et al.
Journal of Inherited Metabolic Disease
|
November 5, 1997
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
V Guzzetta, G Bonapace, I Dianzani, et al.
International Journal of Molecular Medicine
|
November 13, 2003
Telomerase in intracranial meningiomas
L Boldrini, S Pistolesi, S Gisfredi, et al.
Molecular Aspects of Medicine
|
January 1, 1994
An updating of the biochemical function of coenzyme Q in mitochondria
G Lenaz, R Fato, C Castelluccio, et al.
Neurological Research
|
September 1, 1984
Extra-intracranial arterial bypass in typical carotid reversible ischaemic deficits: long-term follow-up in 100 patients
F Reale, E Benericetti, L Benvenuti, et al.
Minerva Pediatrica
|
February 21, 2013
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype
V De Clemente, G Vitiello, F Imperati, et al.
American Journal of Medical Genetics
|
July 3, 1995
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
G Parenti, M G Rizzolo, M Ghezzi, et al.
The Biochemical Journal
|
October 1, 1995
Major changes in complex I activity in mitochondria from aged rats may not be detected by direct assay of NADH:coenzyme Q reductase
M L Genova, C Castelluccio, R Fato, et al.
Molecular Genetics and Metabolism
|
June 27, 2002
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene
S Bisanzi, A Morrone, M A Donati, et al.
The Histochemical Journal
|
January 1, 1988
Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor
R Willemsen, M Kroos, A T Hoogeveen, et al.
Page
of 23