نتائج البحث

Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins.

• Authors : Iida, A.; Saito, S.; Sekine, A.

• Source: Journal of Human Genetics. 2001, Vol. 46 Issue 11, p668. 16p.

تفاصيل العنوان

Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins

• Authors : Aritoshi Iida; Saori Osawa; Satoko Harigae

Subjects: Untranslated region; dbSNP; Organic Anion Transporters

• Source: Journal of human genetics. 46(11)

تفاصيل العنوان

Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.

• Authors : Zhu M; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, P.R. China.; Zhu X

Subjects: Multiple Acyl Coenzyme A Dehydrogenase Deficiency/Multiple Acyl Coenzyme A Dehydrogenase Deficiency/Multiple Acyl Coenzyme A Dehydrogenase Deficiency/*drug therapy ; Riboflavin/Riboflavin/Riboflavin/*therapeutic use; Adult

• Source: Journal of human genetics [J Hum Genet] 2014 May; Vol. 59 (5), pp. 256-61. Date of Electronic Publication: 2014 Feb 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

Novel FIG4 mutations in Yunis-Varon syndrome.

• Authors : Nakajima J; 1] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan [2] Department of Pediatrics, Tokyo Medical University, Shinjuku, Japan.; Okamoto N

Subjects: Cleidocranial Dysplasia/Cleidocranial Dysplasia/Cleidocranial Dysplasia/*genetics ; Ectodermal Dysplasia/Ectodermal Dysplasia/Ectodermal Dysplasia/*genetics ; Flavoproteins/Flavoproteins/Flavoproteins/*genetics Yunis Varon syndrome

• Source: Journal of human genetics [J Hum Genet] 2013 Dec; Vol. 58 (12), pp. 822-4. Date of Electronic Publication: 2013 Oct 03.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

Novel FIG4 mutations in Yunis-Varon syndrome

• Authors : Jun Shiraishi; Junya Nakajima; Nobuhiko Okamoto

Subjects: Biallelic Mutation; medicine.medical_specialty; Micrognathism

• Source: Journal of human genetics. 58(12)

تفاصيل العنوان