A. Yokoi

发表

CHIPS for genetic testing to improve a regional clinical genetic service

K. Yamada, Y. Niida, M. Kuroda, 2015, Clinical genetics.

Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

Y. Niida, M. Kuroda, Y. Mitani, 2017, Brain and Development.

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

Y. Niida, M. Kuroda, Y. Mitani, 2012, Molecular genetics and metabolism.

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

Y. Niida, M. Kuroda, Y. Mitani, 2016, Brain and Development.

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

H. Yamada, Y. Niida, M. Kuroda, 2013, Journal of Human Genetics.

Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy

Y. Niida, M. Kuroda, Y. Mitani, 2012, Journal of Human Genetics.

Serum tau protein as a marker of disease activity in enterohemorrhagic Escherichia coli O111-induced hemolytic uremic syndrome

H. Kanegane, Mika Ito, Y. Niida, 2015, Neurochemistry International.

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

Y. Niida, M. Kuroda, Y. Mitani, 2017, Congenital anomalies.

B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease)

Y. Niida, A. Yachie, T. Toma, 2018, Pediatric Research.