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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.
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.
Metabolism: Clinical and Experimental
|
November 1, 1990
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency
P Rubba, F Faccenda, P Pauciullo, et al.
Pediatric Research
|
April 1, 1985
Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells
E A Kvittingen, B Steinmann, R Gitzelmann, et al.
Stroke
|
May 1, 1994
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity
P Rubba, M Mercuri, F Faccenda, et al.
Transactions of the Association of American Physicians
|
January 1, 1992
In vivo platelet activation in homozygous cystathionine beta-synthase deficiency: a probucol-sensitive phenomenon
G Di Minno, M Margaglione, F Cirillo, et al.
Journal of Inherited Metabolic Disease
|
June 16, 2007
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings
F Santamaria, M V Andreucci, G Parenti, et al.
The Journal of Clinical Investigation
|
September 1, 1993
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism
G Di Minno, G Davì, M Margaglione, et al.
American Journal of Respiratory and Critical Care Medicine
|
February 1, 1996
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods
F Santamaria, G Parenti, G Guidi, et al.
European Journal of Pediatrics
|
December 11, 2008
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b
D Melis, R Della Casa, R Parini, et al.
Page
of 14
Search research articles
Search
Showing results (91-100 of 137) with videos related to
Sort By:
Page
of 14
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.
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.
Metabolism: Clinical and Experimental
|
November 1, 1990
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency
P Rubba, F Faccenda, P Pauciullo, et al.
Pediatric Research
|
April 1, 1985
Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells
E A Kvittingen, B Steinmann, R Gitzelmann, et al.
Stroke
|
May 1, 1994
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity
P Rubba, M Mercuri, F Faccenda, et al.
Transactions of the Association of American Physicians
|
January 1, 1992
In vivo platelet activation in homozygous cystathionine beta-synthase deficiency: a probucol-sensitive phenomenon
G Di Minno, M Margaglione, F Cirillo, et al.
Journal of Inherited Metabolic Disease
|
June 16, 2007
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings
F Santamaria, M V Andreucci, G Parenti, et al.
The Journal of Clinical Investigation
|
September 1, 1993
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism
G Di Minno, G Davì, M Margaglione, et al.
American Journal of Respiratory and Critical Care Medicine
|
February 1, 1996
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods
F Santamaria, G Parenti, G Guidi, et al.
European Journal of Pediatrics
|
December 11, 2008
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b
D Melis, R Della Casa, R Parini, et al.
Page
of 14