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Showing results for ISSN matching 1434-5161

Dent’s disease and prevalence of renal stones in dialysis patients in Northeastern Italy

JOURNAL ARTICLE published January 2006 in Journal of Human Genetics

Authors: Enrica Tosetto | Romina Graziotto | Lina Artifoni | Josef Nachtigal | Carmelo Cascone | Piero Conz | Michele Piva | Roberto Dell’Aquila | Ermanno De Paoli Vitali | Lorenzo Citron | Federico Nalesso | Augusto Antonello | Ugo Vertolli | Riccardo Zagatti | Antonio Lupo | Angela D’Angelo | Franca Anglani | Giovanni Gambaro

https://doi.org/10.1007/s10038-005-0317-x Actions

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

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

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

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

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

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

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

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

JOURNAL ARTICLE published March 2006 in Journal of Human Genetics

Authors: Katia Sampieri | Theodora Hadjistilianou | Francesca Mari | Caterina Speciale | Maria Antonietta Mencarelli | Francesco Cetta | Siranoush Manoukian | Bernard Peissel | Daniela Giachino | Barbara Pasini | Antonio Acquaviva | Aldo Caporossi | Renato Frezzotti | Alessandra Renieri | Mirella Bruttini

https://doi.org/10.1007/s10038-005-0348-3 Actions

Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk

JOURNAL ARTICLE published October 2023 in Journal of Human Genetics

Research funded by Russian Science Foundation (22-24-00264,22-24-00264)

Authors: Miroslava Derenko | Galina Denisova | Andrey Litvinov | Irina Dambueva | Boris Malyarchuk

https://doi.org/10.1038/s10038-023-01173-x Actions

Exogenous gene expression and growth regulation of hematopoietic cells via a novel human artificial chromosome

JOURNAL ARTICLE published February 2006 in Journal of Human Genetics

Authors: Hidetoshi Yamada | Atsushi Kunisato | Masahiro Kawahara | Candice G. T. Tahimic | Xianying Ren | Hiroshi Ueda | Teruyuki Nagamune | Motonobu Katoh | Toshiaki Inoue | Mitsuo Nishikawa | Mitsuo Oshimura

https://doi.org/10.1007/s10038-005-0334-9 Actions

Y-chromosome diversity in the Kalmyks at the ethnical and tribal levels

JOURNAL ARTICLE published December 2013 in Journal of Human Genetics

Authors: Boris Malyarchuk | Miroslava Derenko | Galina Denisova | Sanj Khoyt | Marcin Woźniak | Tomasz Grzybowski | Ilya Zakharov

https://doi.org/10.1038/jhg.2013.108 Actions

Complete genome sequencing and variant analysis of a Pakistani individual

JOURNAL ARTICLE published September 2013 in Journal of Human Genetics

Authors: Muhammad Kamran Azim | Chuanchun Yang | Zhixiang Yan | Muhammad Iqbal Choudhary | Asifullah Khan | Xiao Sun | Ran Li | Huma Asif | Sana Sharif | Yong Zhang

https://doi.org/10.1038/jhg.2013.72 Actions
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