Aya Yoshida - Graduate School of Medical Sciences, Nagoya City University

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Disruption of Endosomal Membrane Protein Recycling Pathway Causes a Variety of Clinical Phenotype in Ritscher-Schinzel/3C Syndrome

Kohji Kato,Yosuke Nishio,Kirsty McMillan,Kate Heesom,Philip Lewis, Shiomi Otsuji,Aya Yoshida,Hisashi Oishi,Shinji Saitoh,Peter Cullen

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 526-527

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A Case Report of a 10-Year-Old Girl with Pituitary Abscess

Aya Yoshida,Maki Oyachi,Naoya Yamaguchi, Atsushi Suzuki,Kohei Aoyama

HORMONE RESEARCH IN PAEDIATRICS (2023): 548-548

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Diverse Phenotypes of Three Cases of Partial Androgen Insensitivity Syndrome with Androgen Receptor Gene Variants

Kohei Aoyama,Maki Oyachi,Aya Yoshida,Naoya Yamaguchi, Atsushi Suzuki,Haruo Mizuno,Shinji Saitoh

HORMONE RESEARCH IN PAEDIATRICS (2023): 562-562

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An Infant with a Heterozygous Variant of ABCG5 Presented with Hypercholesterolemia Only During Breastfeeding

Aya Yoshida,Kohei Aoyama,Naoya Yamaguchi, Atsushi Suzuki,Haruo Mizuno,Hayato Tada,Shinji Saitoh

Clinical pediatric endocrinologyno. 2 (2023): 114-118

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Relationship between Birth Order and Postnatal Growth until 4 Years of Age: The Japan Environment and Children's Study

Aya Yoshida,Kayo Kaneko,Kohei Aoyama,Naoya Yamaguchi,Atsushi Suzuki,Sayaka Kato,Takeshi Ebara,Mayumi Sugiura-Ogasawara,Michihiro Kamijima,Shinji Saitoh,The Japan Environment And Children's Study Group

Children (Basel, Switzerland)no. 3 (2023): 557-557

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The Iodide Transporter Slc26a7 Impacts Thyroid Function More Strongly Than Slc26a4 in Mice

Naoya Yamaguchi,Atsushi Suzuki,Aya Yoshida,Tatsushi Tanaka,Kohei Aoyama,Hisashi Oishi,Yuichiro Hara,Tomoo Ogi,Izuki Amano,Satomi Kameo,Noriyuki Koibuchi,Yasuhiro Shibata,Shinya Ugawa,Haruo Mizuno,Shinji Saitoh

Scientific Reports（2022）

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An Infant Case of Pseudohypoaldosteronism Type1a Caused by a Novel NR3C2 Variant

Saki Noda,Kohei Aoyama, Yuto Kondo,Jun Okamura,Atsushi Suzuki,Naoya Yamaguchi,Aya Yoshida,Yoshishige Miyake

Human genome variation（2021）

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De Novo 2q36.3q37.1 Deletion Encompassing TRIP12 and NPPC Yields Distinct Phenotypes

Yuto Kondo,Kohei Aoyama,Hisato Suzuki,Ayako Hattori,Ikumi Hori,Koichi Ito,Aya Yoshida, Mari Koroki, Kentaro Ueda,Kenjiro Kosaki,Shinji Saitoh

Human Genome Variation（2020）

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A case of Wiedemann-Steiner syndrome with central precocious puberty

Kohei Aoyama,Aya Yoshida,Naoya Yamaguchi,Atsushi Suzuki,Tatsushi Tanaka,Shinji Saitoh,Haruo Mizuno

HORMONE RESEARCH IN PAEDIATRICS（2019）

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Homozygous Loss-of-function Mutation in the SLC26A7 Gene Coding a Novel Iodide Transporter Causes Goitrous Congenital Hypothyroidism

Atsushi Suzuki,Jun Ishii,Aya Yoshida, Naoya Yamguchi,Tatsushi Tanaka,Kohei Aoyama,Michihiro Tateyama,I-Shan Chen,Yoshihiro Kubo,Toru Kimura,Takuya Yazawa,Yu Arimasu,Hiroshi Kamma,Shinji Saitoh,Haruo Mizuno

HORMONE RESEARCH IN PAEDIATRICS（2019）

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