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Biochimica Et Biophysica Acta
|
April 16, 1998
Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing
Y S Hong, D S Kerr, T C Liu, et al.
Clinical Genetics
|
August 1, 1990
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports
T D Wardinsky, R A Pagon, B R Powell, et al.
Nature
|
December 15, 1991
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis
C V Rojas, J Z Wang, L S Schwartz, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Folinic acid responsive seizures: a new syndrome?
K Hyland, N R Buist, B R Powell, et al.
Neurology
|
March 1, 1990
Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation
B R Powell, N G Kennaway, W J Rhead, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
August 1, 1989
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness
R G Weleber, D A Pillers, B R Powell, et al.
American Journal of Medical Genetics
|
May 1, 1990
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia
D A Pillers, R G Weleber, B R Powell, et al.
American Journal of Human Genetics
|
November 1, 1990
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy
D A Pillers, J A Towbin, J S Chamberlain, et al.
The Journal of Pediatrics
|
November 1, 1991
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
R I Kelley, J P Cheatham, B J Clark, et al.
Pediatric Research
|
November 1, 1990
Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency
N G Kennaway, R D Carrero-Valenzuela, G Ewart, et al.
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Search research articles
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Showing results (11-20 of 26) with videos related to
Sort By:
Page
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Biochimica Et Biophysica Acta
|
April 16, 1998
Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing
Y S Hong, D S Kerr, T C Liu, et al.
Clinical Genetics
|
August 1, 1990
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports
T D Wardinsky, R A Pagon, B R Powell, et al.
Nature
|
December 15, 1991
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis
C V Rojas, J Z Wang, L S Schwartz, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Folinic acid responsive seizures: a new syndrome?
K Hyland, N R Buist, B R Powell, et al.
Neurology
|
March 1, 1990
Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation
B R Powell, N G Kennaway, W J Rhead, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
August 1, 1989
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness
R G Weleber, D A Pillers, B R Powell, et al.
American Journal of Medical Genetics
|
May 1, 1990
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia
D A Pillers, R G Weleber, B R Powell, et al.
American Journal of Human Genetics
|
November 1, 1990
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy
D A Pillers, J A Towbin, J S Chamberlain, et al.
The Journal of Pediatrics
|
November 1, 1991
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
R I Kelley, J P Cheatham, B J Clark, et al.
Pediatric Research
|
November 1, 1990
Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency
N G Kennaway, R D Carrero-Valenzuela, G Ewart, et al.
Page
of 3