Concepedia

Ayano Yokoi

AY

Statistics

Publications

8

Citations

225

H-Index

8

Active since

2001

Affiliations

Kanazawa University(Current)

Kanazawa Medical University

Kanazawa Medical University Hospital

Tonami General Hospital

Toyama Prefectural Central Hospital

Ayano Yokoi is an author at Kanazawa University specializing in life sciences, human genetics, and genetics.

Publications per year

2001–2016

8

Publications

8

A novel single-nucleotide polymorphism in the 3'-untranslated region of the human dihydrofolate reductase gene with enhanced expression.

Yoshinori Goto, Li-Jie Yue, Ayano Yokoi et al. · PubMed · 2001 · 117 citations

, , +13

Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported

Yo Niida, Akiko Wakisaka, Takanori Tsuji et al. · Journal of Human Genetics · 2013 · 25 citations · Full text

, , +12

A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1

Yo Niida, Ayano Yokoi, Mondo Kuroda et al. · Brain and Development · 2016 · 21 citations

, , +7

A Say‐Barber‐Biesecker‐Young‐Simpson variant of Ohdo syndrome with a <i>KAT6B</i> 10‐base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome

Yo Niida, Yusuke Mitani, Mondo Kuroda et al. · Congenital Anomalies · 2016 · 14 citations · Full text

, , +12

Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis

Yo Niida, Mondo Kuroda, Yusuke Mitani et al. · Molecular Genetics and Metabolism · 2012 · 13 citations

, , +12

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