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検索結果 8 件

TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: identification of two aberrant transcripts

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デジタル記事
Uchiyama, Hiroki, Masunaga, Yohei, Ishikawa, Takamichi, Fukuoka, Tetsuya, Fukami, Maki, Saitsu, Hirotomo, Ogata, TsutomuElsevier2020-11European Journal of Medical Genetics63 11p.104060-
全国の図書館

TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: identification of two aberrant transcripts

TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: identification of two aberrant transcripts
デジタル記事
2020-11European Journal of Medical Genetics63 11p.104060-
全国の図書館
  • 掲載誌（ISSN）17697212 18780849

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features
デジタル記事
2020-04European Journal of Medical Genetics63 4p.103804-
全国の図書館
  • 掲載誌（ISSN）17697212 18780849

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features

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デジタル記事
Fukuda, Tokiko, Hiraide, Takuya, Yamoto, Kaori, Nakashima, Mitsuko, Kawai, Tomoko, Yanagi, Kumiko, Ogata, Tsutomu, Saitsu, HirotomoElsevier2020-04European Journal of Medical Genetics63 4p.103804-
全国の図書館

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array.

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array.
デジタル記事
2010-09European journal of medical genetics53 5p.244-249
全国の図書館
  • 掲載誌（ISSN）17697212 18780849

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array.

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デジタル記事
Oikawa, Masahiro, Kuniba, Hideo, Kondoh, Tatsuro, Kinoshita, Akira, Nagayasu, Takeshi, Niikawa, Norio, Yoshiura, Koh-ichiroElsevier2010-09European journal of medical genetics53 5p.244-249
全国の図書館
  • 掲載誌（ISSN）17697212 18780849

European journal of medical genetics

European journal of medical genetics
記録メディア雑誌
Elsevier2005-
全国の図書館
  • ISSN18780849
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European Journal of Medical Genetics

European Journal of Medical Genetics
デジタル電子書籍・電子雑誌雑誌
Elsevier Masson
国立国会図書館

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