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Journal of human genetics

Journal of human genetics
紙雑誌
Macmillan Publishers Limited<Z54-H248>
国立国会図書館
  • ISSN1434-5161
  • 関連情報Journal of human genetics / Japan Society of Human Genetics (ISSN:1434-5161)
  • 関連情報（ISSN）1434-5161
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Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome 64 10

書影書影書影
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome 64 10
デジタル博士論文障害者向け資料あり
青井, 裕美2019Journal of Human Genetics
国立国会図書館
  • ISSN1434-5161

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome 64 5

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Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome 64 5
デジタル博士論文障害者向け資料あり
清水, 日智Springer Nature2020-03-19Journal of Human Genetics
国立国会図書館
  • ISSN1434-5161

Postmortem genetic analysis of sudden unexpected death in infancy:neonatal genetic screening may enable the prevention of sudden infant death 62 11

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Postmortem genetic analysis of sudden unexpected death in infancy:neonatal genetic screening may enable the prevention of sudden infant death 62 11
デジタル博士論文障害者向け資料あり
大島, 友希Springer Nature2018-03-31Journal of Human Genetics
国立国会図書館
  • ISSN1434-5161

LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells 63

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LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells 63
デジタル博士論文障害者向け資料あり
川村, 雄一2018Journal of Human Genetics
国立国会図書館
  • ISSN1434-5161

Prevalence of four Mendelian disorders associated with autism in 2392 affected families

Prevalence of four Mendelian disorders associated with autism in 2392 affected families
紙記事
Avi Saskin, Vanessa Fulginiti, Ashley H Birch, Yannis Trakadis<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.657-659
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
紙記事
Wenjuan Chen, Christine Shieh, Sharon A Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M Graham, Suneeta Madan-Khetarpal, Stephen F Traynelis, Hongjie Yuan, Tyler Mark Pierson<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.589-593
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Subdivisions of haplogroups U and C encompass mitochondrial DNA lineages of Eneolithic-Early Bronze Age Kurgan populations of western North Pontic steppe

Subdivisions of haplogroups U and C encompass mitochondrial DNA lineages of Eneolithic-Early Bronze Age Kurgan populations of western North Pontic steppe
紙記事
Alexey G Nikitin, Svetlana Ivanova, Dmytro Kiosak, Jessica Badgerow, Jeff Pashnick<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.605-613
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor

Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor
紙記事
Xue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou, Yu-Ping Wang<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.641-646
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Clinical diversity caused by novel IGHMBP2 variants

Clinical diversity caused by novel IGHMBP2 variants
紙記事
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Hiroshi Yaguchi, Koji Tsuzaki, Azusa Ikeda, Kenji Wada-Isoe, Masahiro Ando, Tomonori Nakamura, Yujiro Higuchi, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.599-604
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1
紙記事
Priya T Bhola, Taila Hartley, Eric Bareke, Care4Rare Canada Consortium, Kym M Boycott, Sarah M Nikkel, David A Dyment<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.661-663
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Mosaic chromosome Y loss and testicular germ cell tumor risk

Mosaic chromosome Y loss and testicular germ cell tumor risk
紙記事
Mitchell J Machiela, Casey L Dagnall, Anand Pathak, Jennifer T Loud, Stephen J Chanock, Mark H Greene, Katherine A McGlynn, Douglas R Stewart<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.637-640
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Including non-informative parents in transmission-based association tests

Including non-informative parents in transmission-based association tests
紙記事
Hemant Kulkarni, Saurabh Ghosh<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.621-629
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors

Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors
紙記事
Ju Sun Song, Jong-Sun Kang, Young-Eun Kim, Seung-jung Park, Kyoung-Min Park, June Huh, June Soo Kim, Hana Cho, Chang-Seok Ki, Young Keun On<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.615-620
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome
紙デジタル記事
Takehiko Inui, Mai Anzai, Yusuke Takezawa, Wakaba Endo, Yosuke Kakisaka, Atsuo Kikuchi, Akira Onuma, Shigeo Kure, Ichizo Nishino, Chihiro Ohba, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.653-655
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data : application to ancient remains from the Moon Pyramid, Mexico

Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data : application to ancient remains from the Moon Pyramid, Mexico
紙記事
Fuzuki Mizuno, Masahiko Kumagai, Kunihiko Kurosaki, Michiko Hayashi, Saburo Sugiyama, Shintaroh Ueda, Li Wang<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.631-635
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia

Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia
紙記事
Yu Sun, Guorui Hu, Jihang Luo, Di Fang, Yongguo Yu, Xiang Wang, Jing Chen, Wenjuan Qiu<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(6):2017.6p.647-651
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Journal of human genetics

書影書影
Journal of human genetics
紙デジタル雑誌
Japan Society of Human GeneticsSpringer Nature1998-<Z54-H248>
インターネットで読める国立国会図書館全国の図書館
  • ISSN1434-5161
  • 関連情報Journal of human genetics (ISSN:1434-5161)
  • 関連情報（ISSN）1434-5161
  •  
  •  
  •  
  •  
  •  
    •  

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
紙デジタル記事
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Keitaro Yamada, Tohru Okanishi, Nina Ekhilevitch, Hanna Mandel, Ayelet Eran, Miyuki Toyono, Yukio Sawaishi, Hirotaka Motoi, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(5):2017.5p.525-529
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161

Single-nucleotide variant proportion in genes : a new concept to explore major depression based on DNA sequencing data

Single-nucleotide variant proportion in genes : a new concept to explore major depression based on DNA sequencing data
紙記事
Chenglong Yu, Bernhard T Baune, Julio Licinio, Ma-Li Wong<Z54-H248>Journal of human genetics / Japan Society of Human Genetics62(5):2017.5p.577-580
国立国会図書館全国の図書館
  • 掲載誌（ISSN）1434-5161