Current Affiliation Organization 【 display / non-display 】

Current Affiliation Organization 【 display / non-display 】

Academic degree 【 display / non-display 】

Academic degree 【 display / non-display 】

External Career 【 display / non-display 】

External Career 【 display / non-display 】

Research Interests 【 display / non-display 】

Research Interests 【 display / non-display 】

Research Areas 【 display / non-display 】

Research Areas 【 display / non-display 】

Research Theme 【 display / non-display 】

Research Theme 【 display / non-display 】

• Oral-Facial-Digital Disease Type 1(OFD1)

• Mucopolysaccharidosis (MPS)

Published Papers 【 display / non-display 】

Published Papers 【 display / non-display 】

• A severe case of status dystonicus caused by a de novo KMT2B missense mutation.

  Nakamura S, Chinen Y, Satou K, Tokashiki T, Kumada S, Yanagi K, Kaname T, Naritomi K, Nakanishi K

  European journal of medical genetics ( European Journal of Medical Genetics )  63 ( 11 ) 104057   2020.08 [ Peer Review Accepted ]

  Type of publication: Research paper (scientific journal)

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• Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.

  Yonamine T, Kaname T, Chinen Y, Tamashiro K, Kosuge N, Saito S

  Urology case reports ( Urology Case Reports )  30   101141   2020.05 [ Peer Review Accepted ]

  Type of publication: Research paper (scientific journal)

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• A novel homozygous missense <i>SLC25A20</i> mutation in three CACT-deficient patients: clinical and autopsy data.

  Chinen Y, Yanagi K, Nakamura S, Nakayama N, Kamiya M, Nakayashiro M, Kaname T, Naritomi K, Nakanishi K

  Human genome variation ( Human Genome Variation )  7 ( 1 ) 11   2020 [ Peer Review Accepted ]

  Type of publication: Research paper (scientific journal)

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• Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

  Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N

  Journal of human genetics ( Journal of Human Genetics )  64 ( 12 ) 1173 - 1186   2019.12 [ Peer Review Accepted ]

  Type of publication: Research paper (scientific journal)

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• Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.

  Taylor M, Khan S, Stapleton M, Wang J, Chen J, Wynn R, Yabe H, Chinen Y, Boelens JJ, Mason RW, Kubaski F, Horovitz DDG, Barth AL, Serafini M, Bernardo ME, Kobayashi H, Orii KE, Suzuki Y, Orii T, Tomatsu S

  Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation ( Biology of Blood and Marrow Transplantation )  25 ( 7 ) e226 - e246   2019.07 [ Peer Review Accepted ]

  Type of publication: Research paper (scientific journal)

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