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Journal of Inherited Metabolic Disease
|
January 1, 1982
A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
F Endo, A Kitano, I Uehara, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency
T Matsuura, R Hoshide, S Komaki, et al.
Pediatric Research
|
February 1, 1983
Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia
F Endo, A Kitano, I Uehara, et al.
Gene
|
December 15, 1992
Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1
K Ohta, Y Nobukuni, H Mitsubuchi, et al.
Human Genetics
|
February 1, 1994
Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes
T Matsuura, R Hoshide, C Setoyama, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
November 1, 1995
Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts
H Nakazato, S Hattori, T Ushijima, et al.
Kaku Igaku. the Japanese Journal of Nuclear Medicine
|
December 24, 1997
[Pitfall in 201Tl-99mTc subtraction scintigraphy: a case of 99mTc-pertechnetate uptake in a parathyroid hyperplasia]
T Tachikawa, S Matsumoto, A Naka, et al.
European Journal of Pediatrics
|
December 1, 1978
Delayed cutaneous hypersensitivity in children with severe multiple handicaps treated with phenytoin
A Higashi, I Matsuda, S Sinosuka, et al.
American Journal of Medical Genetics
|
March 17, 1997
Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency
S Komaki, T Matsuura, K Oyanagi, et al.
The Journal of Dermatology
|
February 1, 1988
Immunochemical analyses of prolidase deficiency sera
K Yonemasu, C M Lapière, T Sasaki, et al.
Page
of 20
Search research articles
Search
Showing results (151-160 of 197) with videos related to
Sort By:
Page
of 20
Journal of Inherited Metabolic Disease
|
January 1, 1982
A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
F Endo, A Kitano, I Uehara, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency
T Matsuura, R Hoshide, S Komaki, et al.
Pediatric Research
|
February 1, 1983
Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia
F Endo, A Kitano, I Uehara, et al.
Gene
|
December 15, 1992
Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1
K Ohta, Y Nobukuni, H Mitsubuchi, et al.
Human Genetics
|
February 1, 1994
Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes
T Matsuura, R Hoshide, C Setoyama, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
November 1, 1995
Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts
H Nakazato, S Hattori, T Ushijima, et al.
Kaku Igaku. the Japanese Journal of Nuclear Medicine
|
December 24, 1997
[Pitfall in 201Tl-99mTc subtraction scintigraphy: a case of 99mTc-pertechnetate uptake in a parathyroid hyperplasia]
T Tachikawa, S Matsumoto, A Naka, et al.
European Journal of Pediatrics
|
December 1, 1978
Delayed cutaneous hypersensitivity in children with severe multiple handicaps treated with phenytoin
A Higashi, I Matsuda, S Sinosuka, et al.
American Journal of Medical Genetics
|
March 17, 1997
Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency
S Komaki, T Matsuura, K Oyanagi, et al.
The Journal of Dermatology
|
February 1, 1988
Immunochemical analyses of prolidase deficiency sera
K Yonemasu, C M Lapière, T Sasaki, et al.
Page
of 20