E. Takahashi

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

N. Matsumoto, M. Shiina, K. Ogata, 2013, Human Genetics.

Antenatal diagnosis of sacrococcygeal teratoma with hydrops fetalis; a case report.

N. Suehara, A. Okada, A. Kubota, 1994, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.

Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases

M. Itoh, Takashi Saito, K. Narita, 2017, Brain and Development.

Cyclophosphamide followed by mizoribine as maintenance therapy against refractory steroid-dependent nephrotic syndrome

S. Ito, Tomonori Harada, K. Kamei, 2011, Pediatric Nephrology.

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

N. Matsumoto, M. Shiina, K. Ogata, 2014, Human Genetics.

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

I. Vořechovský, K. Nakanishi, M. Yanagita, 2017, Journal of Human Genetics.