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Showing results for ISSN matching 1434-5161

Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information

JOURNAL ARTICLE published March 2006 in Journal of Human Genetics

Authors: Konrad Oexle

https://doi.org/10.1007/s10038-005-0345-6 Actions

LETTER TO THE EDITOR

JOURNAL ARTICLE published December 2001 in Journal of Human Genetics

Authors: Per Ladenvall | Ulrika Wall | Sverker Jern | Christina Jern

https://doi.org/10.1007/pl00010919 Actions

Unified method for Bayesian calculation of genetic risk

JOURNAL ARTICLE published April 2006 in Journal of Human Genetics

Authors: Shin-ichi Kuno | Shiori Furihata | Toshikazu Itou | Kayoko Saito | Naoyuki Kamatani

https://doi.org/10.1007/s10038-006-0371-z Actions

A misquoted mutation in exon16 of the BRCA2 gene

JOURNAL ARTICLE published March 2006 in Journal of Human Genetics

Authors: Agapi Kataki | Anastasia Derventzi | Ilias Gomatos | Manoussos M. Konstadoulakis

https://doi.org/10.1007/s10038-005-0347-4 Actions

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

JOURNAL ARTICLE published September 2006 in Journal of Human Genetics

Authors: Byoung Joon Kim | Chang-Seok Ki | Jong-Won Kim | Duk Hyun Sung | Young-Chul Choi | Seung Hyun Kim

https://doi.org/10.1007/s10038-006-0047-8 Actions

Novel single nucleotide polymorphisms of the human nuclear factor kappa-B 2 gene identified by sequencing the entire gene

JOURNAL ARTICLE published January 2001 in Journal of Human Genetics

Authors: Y. Shinohara | H. Iwasaki | N. Ota | T. Nakajima | M. Kodaira | M. Kajita | T. Shiba | M. Emi

https://doi.org/10.1007/s100380170127 Actions

Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA) gene

JOURNAL ARTICLE published June 2001 in Journal of Human Genetics

Authors: I. Nakazawa | T. Nakajima | T. Ishigami | S. Umemura | M. Emi

https://doi.org/10.1007/s100380170055 Actions

A new haplogroup pattern displayed in Fujian Han in China

JOURNAL ARTICLE published February 2002 in Journal of Human Genetics

Authors: M. Yu | Y. Zhang | Y. Xue | F. Chen | Q. Wang | X. Huang | B. Wang | Y. Yu | A. Liu | L. Ma | R. Shi | F. Lu | Z. Shi | Y. Zhang | W. Cheng | Q. Ai | F. Xu | C. Huang | B. Chen | H. Yang | X. Kang | Y. Sun | G. Zhang | P. Li | S. Fu

https://doi.org/10.1007/s100380200008 Actions

Rapid isolation of viral integration site reveals frequent integration of HTLV-1 into expressed loci

JOURNAL ARTICLE published March 2004 in Journal of Human Genetics

Authors: Tatsuhiko Ozawa | Takahiro Itoyama | Naoki Sadamori | Yasuaki Yamada | Tomoko Hata | Masao Tomonaga | Masaharu Isobe

https://doi.org/10.1007/s10038-004-0126-7 Actions

Cluster analysis and association study of structured multilocus genotype data

JOURNAL ARTICLE published February 2005 in Journal of Human Genetics

Authors: Takahiro Nakamura | Akira Shoji | Hironori Fujisawa | Naoyuki Kamatani

https://doi.org/10.1007/s10038-004-0220-x Actions

Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients

JOURNAL ARTICLE published June 2004 in Journal of Human Genetics

Authors: Mitsuaki Ishihara | Tadao Iwasaki | Makoto Nagano | Jun Ishii | Mayumi Takano | Takeshi Kujiraoka | Masahiro Tsuji | Hiroaki Hattori | Mitsuru Emi

https://doi.org/10.1007/s10038-004-0151-6 Actions

Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis

JOURNAL ARTICLE published August 2004 in Journal of Human Genetics

Authors: Yi-Ning Su | Chien-Nan Lee | Shu-Chin Chien | Chia-Cheng Hung | Yin-Hsiu Chien | Chi-An Chen

https://doi.org/10.1007/s10038-004-0165-0 Actions

Log-linear models for assessing gene–age interaction and their application to case-control studies of the apolipoprotein E (apoE) gene in Alzheimer's disease

JOURNAL ARTICLE published October 2003 in Journal of Human Genetics

Authors: Noriko Tanaka | Toru Kinoshita | Takashi Asada | Yasuo Ohashi

https://doi.org/10.1007/s10038-003-0069-4 Actions

Genomic structure and alternative splicing of the insulin receptor tyrosine kinase substrate of 53-kDa protein

JOURNAL ARTICLE published August 2003 in Journal of Human Genetics

Authors: Atsushi Miyahara | Yuko Okamura-Oho | Toshiyuki Miyashita | Akinori Hoshika | Masao Yamada

https://doi.org/10.1007/s10038-003-0047-x Actions

Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome

JOURNAL ARTICLE published October 2004 in Journal of Human Genetics

Authors: Dong-Jik Shin | Yangsoo Jang | Hyun-Young Park | Jong Eun Lee | Keumjin Yang | Eunmin Kim | Yoonjung Bae | Jongmin Kim | Jeongki Kim | Sung Soon Kim | Moon Hyoung Lee | Mohamed Chahine | Sungjoo Kim Yoon

https://doi.org/10.1007/s10038-004-0182-z Actions

Clinical and genetic features of cystic fibrosis in Japan

JOURNAL ARTICLE published October 2023 in Journal of Human Genetics

Authors: Yuka Kozawa | Akiko Yamamoto | Miyuki Nakakuki | Kotoyo Fujiki | Shiho Kondo | Takuto Okada | Tomoya Fukuyasu | Makoto Yamaguchi | Itsuka Taniguchi | Nao Nomura | Libin Liu | Mayuko Higuchi | Erina Niwa | Yoshiro Sohma | Satoru Naruse | Yoshifumi Takeyama | Hiroshi Ishiguro

https://doi.org/10.1038/s10038-023-01160-2 Actions

A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population

JOURNAL ARTICLE published December 2009 in Journal of Human Genetics

Authors: Mariano Guardado-Estrada | Eligia Juarez-Torres | Ingrid Medina-Martinez | Ana Wegier | Antonio Macías | Guillermo Gomez | Fernando Cruz-Talonia | Edgar Roman-Bassaure | Daniel Piñero | Susana Kofman-Alfaro | Jaime Berumen

https://doi.org/10.1038/jhg.2009.98 Actions

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation

JOURNAL ARTICLE published October 2017 in Journal of Human Genetics

Authors: Tonia C Carter | Robert J Sicko | Denise M Kay | Marilyn L Browne | Paul A Romitti | Zoё L Edmunds | Aiyi Liu | Ruzong Fan | Charlotte M Druschel | Michele Caggana | Lawrence C Brody | James L Mills

https://doi.org/10.1038/jhg.2017.56 Actions

Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility

JOURNAL ARTICLE published January 2008 in Journal of Human Genetics

Authors: Qing Jiang | Dongquan Shi | Masahiro Nakajima | Jin Dai | Jia Wei | Konstantinos N. Malizos | Jianghui Qin | Yoshinari Miyamoto | Naoyuki Kamatani | Baorui Liu | Aspasia Tsezou | Takahiro Nakamura | Shiro Ikegawa

https://doi.org/10.1007/s10038-007-0216-4 Actions

Association of radial bone mineral density with CA repeat polymorphism at the interleukin 6 locus in postmenoposal Japanese women

JOURNAL ARTICLE published May 1999 in Journal of Human Genetics

Authors: Kazuhiro Tsukamoto | Hideo Yoshida | Shuichiro Watanabe | Takao Suzuki | Mariko Miyao | Takayuki Hosoi | Hajime Orimo | M. Emi

https://doi.org/10.1007/s100380050132 Actions
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