Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICP... von Hayashi, Shin, Uehara, Daniela Tiaki, Tanimoto, Kousuke, Mizuno, Seiji, Chinen, Yasutsugu, Fukumura, Shinobu, Takanashi, Jun-Ichi, Osaka, Hitoshi, Okamoto, Nobuhiko, Inazawa, Johji

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Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI von Chinen, Yasutsugu, Nakamura, Sadao, Yanagi, Kumiko, Kaneshi, Takuya, Goya, Hideki, Yoshida, Tomohide, Satou, Kazuhito, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi

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A severe case of status dystonicus caused by a de novo KMT2B missense mutation von Nakamura, Sadao, Chinen, Yasutsugu, Satou, Kazuhito, Tokashiki, Takashi, Kumada, Satoko, Yanagi, Kumiko, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi

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Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future von Taylor, Madeleine, Khan, Shaukat, Stapleton, Molly, Wang, Jianmin, Chen, Jing, Wynn, Robert, Yabe, Hiromasa, Chinen, Yasutsugu, Boelens, Jaap Jan, Mason, Robert W., Kubaski, Francyne, Horovitz, Dafne D.G., Barth, Anneliese L., Serafini, Marta, Bernardo, Maria Ester, Kobayashi, Hironori, Orii, Kenji E., Suzuki, Yasuyuki, Orii, Tadao, Tomatsu, Shunji

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A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation von Chinen, Yasutsugu, Nakamura, Sadao, Kaneshi, Takuya, Nakayashiro, Mami, Yanagi, Kumiko, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi

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A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data von Chinen, Yasutsugu, Yanagi, Kumiko, Nakamura, Sadao, Nakayama, Noriko, Kamiya, Motoko, Nakayashiro, Mami, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi

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Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA von Chinen, Yasutsugu, Higa, Takeshi, Tomatsu, Shunji, Suzuki, Yasuyuki, Orii, Tadao, Hyakuna, Nobuyuki

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Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses von Shimada, Tsutomu, Kelly, Joan, LaMarr, William A., van Vlies, Naomi, Yasuda, Eriko, Mason, Robert W., Mackenzie, William, Kubaski, Francyne, Giugliani, Roberto, Chinen, Yasutsugu, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji E., Fukao, Toshiyuki, Orii, Tadao, Tomatsu, Shunji

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Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report von Yonamine, Tomoko, Kaname, Tadashi, Chinen, Yasutsugu, Tamashiro, Kouichi, Kosuge, Noritake, Saito, Seiichi

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Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study von Chinen, Yasutsugu, Nakamura, Sadao, Tamashiro, Kunihito, Sakamoto, Osamu, Tashiro, Kyoko, Inokuchi, Takahiro, Nakanishi, Koichi

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Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia von Sakamoto, Osamu, Arai-Ichinoi, Natsuko, Mitsubuchi, Hiroshi, Chinen, Yasutsugu, Haruna, Hidenori, Maruyama, Hidehiko, Sugawara, Hidenori, Kure, Shigeo

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Progressive hip joint subluxation in Saul-Wilson syndrome von Chinen, Yasutsugu, Kaneshi, Takuya, Kamiya, Takeshi, Hata, Kenichiro, Nishimura, Gen, Kaname, Tadashi

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Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations von Okamura, Ken, Araki, Yuta, Abe, Yuko, Shigyou, Akari, Fujiyama, Toshiharu, Baba, Atsunori, Kanekura, Takuro, Chinen, Yasutsugu, Kono, Michihiro, Niizeki, Hironori, Tsubota, Akiko, Konno, Takayuki, Hozumi, Yutaka, Suzuki, Tamio

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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangemen... von Uehara, Daniela Tiaki, Hayashi, Shin, Okamoto, Nobuhiko, Mizuno, Seiji, Chinen, Yasutsugu, Kosaki, Rika, Kosho, Tomoki, Kurosawa, Kenji, Matsumoto, Hiroshi, Mitsubuchi, Hiroshi, Numabe, Hironao, Saitoh, Shinji, Makita, Yoshio, Hata, Akira, Imoto, Issei, Inazawa, Johji

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A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels von Chinen, Yasutsugu, Nakamura, Sadao, Yoshida, Tomohide, Maruyama, Hiroki, Nakamura, Kimitoshi

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Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome von Watanabe, Satoshi, Shimizu, Kenji, Ohashi, Hirofumi, Kosaki, Rika, Okamoto, Nobuhiko, Shimojima, Keiko, Yamamoto, Toshiyuki, Chinen, Yasutsugu, Mizuno, Seiji, Dowa, Yuri, Shiomi, Natsuko, Toda, Yoshihiro, Tashiro, Katsuya, Shichijo, Koichi, Minatozaki, Kazunori, Aso, Seijiro, Minagawa, Kyoko, Hiraki, Yoko, Shimokawa, Osamu, Matsumoto, Tadashi, Fukuda, Masafumi, Moriuchi, Hiroyuki, Yoshiura, Koh-ichiro, Kondoh, Tatsuro

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Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies von Hayashi, Shin, Imoto, Issei, Aizu, Yoshinori, Okamoto, Nobuhiko, Mizuno, Seiji, Kurosawa, Kenji, Okamoto, Nana, Honda, Shozo, Araki, Satoshi, Mizutani, Shuki, Numabe, Hironao, Saitoh, Shinji, Kosho, Tomoki, Fukushima, Yoshimitsu, Mitsubuchi, Hiroshi, Endo, Fumio, Chinen, Yasutsugu, Kosaki, Rika, Okuyama, Torayuki, Ohki, Hirotaka, Yoshihashi, Hiroshi, Ono, Masae, Takada, Fumio, Ono, Hiroaki, Yagi, Mariko, Matsumoto, Hiroshi, Makita, Yoshio, Hata, Akira, Inazawa, Johji

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Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1 von Shimabukuro, Wataru, Chinen, Yasutsugu, Imanaga, Naoya, Yanagi, Kumiko, Kaname, Tadashi, Nakanishi, Koichi

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Heterozygous C‐propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant von Takagi, Masaki, Hori, Naoaki, Chinen, Yasutsugu, Kurosawa, Kenji, Tanaka, Yukichi, Oku, Kikuko, Sakata, Hitomi, Fukuzawa, Ryuji, Nishimura, Gen, Spranger, Jürgen, Hasegawa, Tomonobu

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Hematopoietic stem cell transplantation for Morquio A syndrome von Yabe, Hiromasa, Tanaka, Akemi, Chinen, Yasutsugu, Kato, Shunichi, Sawamoto, Kazuki, Yasuda, Eriko, Shintaku, Haruo, Suzuki, Yasuyuki, Orii, Tadao, Tomatsu, Shunji

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