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Human Genetics
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June 1, 1994
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia
K Nanao, K Okamura-Ikeda, Y Motokawa, et al.
Lancet (London, England)
|
January 19, 1991
Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease
D Ravine, R G Walker, R N Gibson, et al.
Acta Neuropathologica
|
January 1, 1989
Striatal degeneration in glutaric acidaemia type II
C W Chow, F E Frerman, S I Goodman, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation
H H Dahl, L L Hansen, R M Brown, et al.
Progress in Clinical and Biological Research
|
January 1, 1992
Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
Y Matsubara, K Narisawa, K Tada, et al.
Biomedical Mass Spectrometry
|
October 1, 1979
Abnormal deoxyribose metabolites in the urine of a child with a possible new inborn error of metabolism
R J Truscott, B Halpern, J Hammond, et al.
American Journal of Medical Genetics
|
July 15, 1994
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22
A J Donnelly, K H Choo, H M Kozman, et al.
The New England Journal of Medicine
|
May 10, 1979
A defect in deoxyribose metabolism
R J Truscott, B Halpern, J Hammond, et al.
Human Genetics
|
June 1, 1991
The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)]
L Hills, E Earle, M Wilson, et al.
Pediatric Research
|
May 1, 1977
Metabolic studies on two patients with nonhepatic tyrosinemia using deuterated tyrosine loads
K F Faull, I Gan, B Halpern, et al.
Page
of 26
Search research articles
Search
Showing results (221-230 of 255) with videos related to
Sort By:
Page
of 26
Human Genetics
|
June 1, 1994
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia
K Nanao, K Okamura-Ikeda, Y Motokawa, et al.
Lancet (London, England)
|
January 19, 1991
Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease
D Ravine, R G Walker, R N Gibson, et al.
Acta Neuropathologica
|
January 1, 1989
Striatal degeneration in glutaric acidaemia type II
C W Chow, F E Frerman, S I Goodman, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation
H H Dahl, L L Hansen, R M Brown, et al.
Progress in Clinical and Biological Research
|
January 1, 1992
Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
Y Matsubara, K Narisawa, K Tada, et al.
Biomedical Mass Spectrometry
|
October 1, 1979
Abnormal deoxyribose metabolites in the urine of a child with a possible new inborn error of metabolism
R J Truscott, B Halpern, J Hammond, et al.
American Journal of Medical Genetics
|
July 15, 1994
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22
A J Donnelly, K H Choo, H M Kozman, et al.
The New England Journal of Medicine
|
May 10, 1979
A defect in deoxyribose metabolism
R J Truscott, B Halpern, J Hammond, et al.
Human Genetics
|
June 1, 1991
The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)]
L Hills, E Earle, M Wilson, et al.
Pediatric Research
|
May 1, 1977
Metabolic studies on two patients with nonhepatic tyrosinemia using deuterated tyrosine loads
K F Faull, I Gan, B Halpern, et al.
Page
of 26