Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder von Abe-Hatano, Chihiro, Yokoi, Takayuki, Ida, Kazumi, Kurosawa, Kenji

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Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy von Yokoi, Takayuki, Sei, Kenshi, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji

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Siblings with vascular Ehlers‐Danlos syndrome inherited via maternal mosaicism von Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji

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Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9 von Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kurosawa, Kenji

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Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon von Kuroda, Yukiko, Murakami, Hiroaki, Yokoi, Takayuki, Kumaki, Tatsuro, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji

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Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder von Yokoi, Takayuki, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji, Higurashi, Norimichi

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Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita von Akahira-Azuma, Moe, Enomoto, Yumi, Nakamura, Naoyuki, Yokoi, Takayuki, Minatogawa, Mari, Harada, Noriaki, Tsurusaki, Yoshinori, Kurosawa, Kenji

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A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing von Yokoi, Takayuki, Enomoto, Yumi, Uehara, Tomoko, Kosaki, Kenjiro, Kurosawa, Kenji

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An efficient genetic test flow for multiple congenital anomalies and intellectual disability von Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Harada, Noriaki, Saito, Toshiyuki, Nagai, Jun‐ichi, Naruto, Takuya, Kurosawa, Kenji

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17q21.32‐q22 Deletion in a girl with osteogenesis imperfecta, tricho‐dento‐osseous syndrome, and intellectual disability von Yokoi, Takayuki, Saito, Toshiyuki, Nagai, Jun‐ichi, Kurosawa, Kenji

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Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy von Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kurosawa, Kenji

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Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction von Hayashi, Shion, Yokoi, Takayuki, Hatano, Chihiro, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kobayashi, Masahisa, Ida, Hiroyuki, Kurosawa, Kenji

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Minimum requirement of donor cells to reduce the glycolipid storage following bone marrow transplantation in a murine model of Fabry disease von Yokoi, Takayuki, Kobayashi, Hiroshi, Shimada, Yohta, Eto, Yoshikatsu, Ishige, Nobuyuki, Kitagawa, Teruo, Otsu, Makoto, Nakauchi, Hiromitsu, Ida, Hiroyuki, Ohashi, Toya

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Extremely low‐birthweight neonate with prenatal Campylobacter infection von Nagashima, Tatsuo, Kobayashi, Masahisa, Teramoto, Satoshi, Okano, Erika, Yokoi, Takayuki, Eto, Yoshikatsu

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Somatic mosaicism of a heterogeneous mutation of ACTA 1 in nemaline myopathy von Yokoi, Takayuki, Sei, Kenshi, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji

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Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II von Yokoi, Takayuki, Yokoi, Kentarou, Akiyama, Kazumasa, Higuchi, Takashi, Shimada, Yohta, Kobayashi, Hiroshi, Sato, Taku, Ohteki, Toshiaki, Otsu, Makoto, Nakauchi, Hiromitsu, Ida, Hiroyuki, Ohashi, Toya

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Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome von Murakami, Hiroaki, Tsurusaki, Yoshinori, Enomoto, Keisuke, Kuroda, Yukiko, Yokoi, Takayuki, Furuya, Noritaka, Yoshihashi, Hiroshi, Minatogawa, Mari, Abe‐Hatano, Chihiro, Ohashi, Ikuko, Nishimura, Naoto, Kumaki, Tatsuro, Enomoto, Yumi, Naruto, Takuya, Iwasaki, Fuminori, Harada, Noriaki, Ishikawa, Aki, Kawame, Hiroshi, Sameshima, Kiyoko, Yamaguchi, Yu, Kobayashi, Masahisa, Tominaga, Makiko, Ishikiriyama, Satoshi, Tanaka, Toshiaki, Suzumura, Hiroshi, Ninomiya, Shinsuke, Kondo, Akane, Kaname, Tadashi, Kosaki, Kenjiro, Masuno, Mitsuo, Kuroki, Yoshikazu, Kurosawa, Kenji

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A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing von Yokoi, Takayuki, Enomoto, Yumi, Uehara, Tomoko, Kosaki, Kenjiro, Kurosawa, Kenji

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Acute lymphoblastic leukemia in a male with Simpson–Golabi–Behmel syndrome von Minatogawa, Mari, Iwasaki, Fuminori, Yokoi, Takayuki, Nagai, Junichi, Sakazume, Satoru, Goto, Hiroaki, Kurosawa, Kenji

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Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing von Enomoto, Yumi, Yokoi, Takayuki, Tsurusaki, Yoshinori, Murakami, Hiroaki, Tominaga, Makiko, Minatogawa, Mari, Abe‐Hatano, Chihiro, Kuroda, Yukiko, Ohashi, Ikuko, Ida, Kazumi, Shiiya, Shizuka, Kumaki, Tatsuro, Naruto, Takuya, Mitsui, Jun, Harada, Noriaki, Kido, Yasuhiro, Kurosawa, Kenji

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