Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
TSURUSAKI, Yoshinori, OKAMOTO, Nobuhiko, FUKUSHIMA, Yoshimitsu, HOMMA, Tomomi, KATO, Mitsuhiro, HIRAKI, Yoko, YAMAGATA, Takanori, YANO, Shoji, MIZUNO, Seiji, SAKAZUME, Satoru, ISHII, Takuma, NAGAI, Toshiro, OHASHI, Hirofumi, SHIINA, Masaaki, OGATAL, Kazuhiro, OHTA, Tohru, NIIKAWA, Norio, MIYATAKE, Satoko, OKADA, Ippei, MIZUGUCHI, Takeshi, DOI, Hiroshi, SAITSU, Hirotomo, MIYAKE, Noriko, KOSHO, Tomoki, MATSUMOTO, Naomichi, IMAI, Yoko, HIBI-KO, Yumiko, KANAME, Tadashi, NARITOMI, Kenji, KAWAME, Hiroshi, WAKUI, Keiko
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy
Yano, Shoji, McGowan, Rachel, Warren, Mikako
Published in Molecular genetics and metabolism reports (01.09.2024)
Published in Molecular genetics and metabolism reports (01.09.2024)
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Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature
Kosho, Tomoki, Okamoto, Nobuhiko, Ohashi, Hirofumi, Tsurusaki, Yoshinori, Imai, Yoko, Hibi-Ko, Yumiko, Kawame, Hiroshi, Homma, Tomomi, Tanabe, Saori, Kato, Mitsuhiro, Hiraki, Yoko, Yamagata, Takanori, Yano, Shoji, Sakazume, Satoru, Ishii, Takuma, Nagai, Toshiro, Ohta, Tohru, Niikawa, Norio, Mizuno, Seiji, Kaname, Tadashi, Naritomi, Kenji, Narumi, Yoko, Wakui, Keiko, Fukushima, Yoshimitsu, Miyatake, Satoko, Mizuguchi, Takeshi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi
Published in American journal of medical genetics. Part A (01.06.2013)
Published in American journal of medical genetics. Part A (01.06.2013)
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A New Electrocardiographic Criterion to Differentiate Between Takotsubo Cardiomyopathy and Anterior Wall ST-Segment Elevation Acute Myocardial Infarction
Tamura, Akira, MD, Watanabe, Toru, MD, Ishihara, Masaharu, MD, Ando, Shinichi, MD, Naono, Shigeru, MD, Zaizen, Hirofumi, MD, Abe, Yusei, MD, Yano, Shoji, MD, Shinozaki, Kazuhiro, MD, Kotoku, Munenori, MD, Momii, Hidetoshi, MD, Kadokami, Toshiaki, MD, Kadota, Junichi, MD
Published in The American journal of cardiology (01.09.2011)
Published in The American journal of cardiology (01.09.2011)
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Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition
Adie, Mohammad Amin, Martes Gomez, Maria, Yom, Jessica, Durand, Manuel, Wertheimer, Fiona, McGowan, Rachel, Yano, Shoji, Ramanathan, Rangasamy
Published in JIM - high impact case reports (01.01.2023)
Published in JIM - high impact case reports (01.01.2023)
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A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder
Watanabe, Yoriko, Yano, Shoji, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Yoshino, Makoto, Matsuishi, Toyojiro
Published in Brain & development (Tokyo. 1979) (01.08.2011)
Published in Brain & development (Tokyo. 1979) (01.08.2011)
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HYPERAMMONEMIA, CARNITINE DEFICIENCY, AND RHABDOMYOLYSIS IN UNDIAGNOSED 3-MCC PATIENT
McGowan, Rachel, Yano, Shoji, Moseley, Kathryn
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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LONG-TERM PROGNOSIS IN TWO ADULT PATIENTS WITH MALONYL COENZYME A DECARBOXYLASE DEFICIENCY
McGowan, Rachel, Moseley, Kathryn, Yano, Shoji
Published in Molecular genetics and metabolism (01.04.2022)
Published in Molecular genetics and metabolism (01.04.2022)
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Reduction of large soft‐tissue Gaucheromas with substrate reduction therapy
Mahajan, Neha, Warren, Mikako, Yano, Shoji
Published in Journal of inherited metabolic disease (01.03.2020)
Published in Journal of inherited metabolic disease (01.03.2020)
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Journal Article
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)
SUTTON, V. Reid, MCALISTER, William H, BERTIN, Terry K, KAFFE, Sara, WANG, Jin-Chen C, YANO, Shoji, SHAFFER, Lisa G, LEE, Brendan, EPSTEIN, Charles J, VILLAR, Angela J
Published in Human genetics (01.10.2003)
Published in Human genetics (01.10.2003)
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Silvery-Gray Hair in a Newborn
Wong, Lawrence, Yano, Shoji
Published in JAMA : the journal of the American Medical Association (08.08.2012)
Published in JAMA : the journal of the American Medical Association (08.08.2012)
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