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Maki Fukami
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Journal Articles

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation

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Subject Area:
Endocrinology , Women's and Children's Health
Erina Suzuki, Yoko Izumi, Yuta Chiba, Reiko Horikawa, Yoichi Matsubara, Mamoru Tanaka, Tsutomu Ogata, Maki Fukami, Yasuhiro Naiki
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2015) 84 (3): 212–216.
https://doi.org/10.1159/000436965
Published Online: 29 July 2015
View article titled, Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation
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Journal Articles

Association between Compound Heterozygous Mutations of SLC34A3 and Hypercalciuria

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Subject Area:
Endocrinology , Women's and Children's Health
Yuki Abe, Keisuke Nagasaki, Toru Watanabe, Tokinari Abe, Maki Fukami
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (1): 65–71.
https://doi.org/10.1159/000360291
Published Online: 11 June 2014
View article titled, Association between Compound Heterozygous Mutations of SLC34A3 and Hypercalciuria
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Journal Articles

De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency

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Subject Area:
Endocrinology , Women's and Children's Health
Erina Suzuki, Shuichi Yatsuga, Maki Igarashi, Mami Miyado, Kazuhiko Nakabayashi, Keiko Hayashi, Kenichirou Hata, Akihiro Umezawa, Gen Yamada, Tsutomu Ogata, Maki Fukami
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 81 (2): 139–144.
https://doi.org/10.1159/000355380
Published Online: 19 March 2014
View article titled, De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency
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Journal Articles

Tamoxifen Treatment for Pubertal Gynecomastia in Two Siblings with Partial Androgen Insensitivity Syndrome

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Subject Area:
Endocrinology , Women's and Children's Health
Reiko Saito, Yukiyo Yamamoto, Motohide Goto, Shunsuke Araki, Kazuyasu Kubo, Rinko Kawagoe, Yasusada Kawada, Koichi Kusuhara, Maki Igarashi, Maki Fukami
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 81 (3): 211–216.
https://doi.org/10.1159/000356923
Published Online: 21 February 2014
View article titled, Tamoxifen Treatment for Pubertal Gynecomastia in Two Siblings with Partial Androgen Insensitivity Syndrome
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Journal Articles

Hypothalamic Dysfunction in a Female with Isolated Hypogonadotropic Hypogonadism and Compound Heterozygous TACR3 Mutations and Clinical Manifestation in Her Heterozygous Mother

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Subject Area:
Endocrinology , Women's and Children's Health
Maki Fukami, Tetsuo Maruyama, Sumito Dateki, Naoko Sato, Yasunori Yoshimura, Tsutomu Ogata
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2010) 73 (6): 477–481.
https://doi.org/10.1159/000313373
Published Online: 15 April 2010
View article titled, Hypothalamic Dysfunction in a Female with Isolated Hypogonadotropic Hypogonadism and Compound Heterozygous TACR3 Mutations and Clinical Manifestation in Her Heterozygous Mother
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Journal Articles

MAMLD1 (CXorf6): A New Gene Involved in Hypospadias

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Subject Area:
Endocrinology , Women's and Children's Health
Tsutomu Ogata, Jocelyn Laporte, Maki Fukami
Journal: Hormone Research in Paediatrics
Hormone Research (2009) 71 (5): 245–252.
https://doi.org/10.1159/000208797
Published Online: 01 April 2009
View article titled, MAMLD1 (CXorf6): A New Gene Involved in Hypospadias
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