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F Endo

Showing results (151-160 of 197) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1982
A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiencyF 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 deficiencyT 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 hypertyrosinemiaF Endo, A Kitano, I Uehara, et al.
Gene|December 15, 1992
Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1K 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 phenotypesT 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 fibroblastsH 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 phenytoinA 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) deficiencyS Komaki, T Matsuura, K Oyanagi, et al.
The Journal of Dermatology|February 1, 1988
Immunochemical analyses of prolidase deficiency seraK Yonemasu, C M Lapière, T Sasaki, et al.
Pageof 20

Showing results (151-160 of 197) with videos related to

Sort By:
Pageof 20
Journal of Inherited Metabolic Disease|January 1, 1982
A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiencyF 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 deficiencyT 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 hypertyrosinemiaF Endo, A Kitano, I Uehara, et al.
Gene|December 15, 1992
Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1K 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 phenotypesT 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 fibroblastsH 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 phenytoinA 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) deficiencyS Komaki, T Matsuura, K Oyanagi, et al.
The Journal of Dermatology|February 1, 1988
Immunochemical analyses of prolidase deficiency seraK Yonemasu, C M Lapière, T Sasaki, et al.
Pageof 20