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RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia (2020)

Tsuchiya, Mai ; Nan, Haitian ; Koh, Kishin ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2020; 65(12): 1143-1147. Published 2020 Jul 21. doi: 10.1038/s10038-020-0807-x.

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Publication Date: 2020-07-21

Print ISSN: 1434-5161

Electronic ISSN: 1435-232X

Topics: Biology , Medicine

Published by Springer Nature

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Paleolithic genetic link between Southern China and Mainland Southeast Asia revealed by ancient mitochondrial genomes (2020)

Bai, Fan ; Zhang, Xinglong ; Ji, Xueping ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2020; 65(12): 1125-1128. Published 2020 Jul 11. doi: 10.1038/s10038-020-0796-9.

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Publication Date: 2020-07-11

Print ISSN: 1434-5161

Electronic ISSN: 1435-232X

Topics: Biology , Medicine

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Investigating the genetic characteristics of the Csangos, a traditionally Hungarian speaking ethnic group residing in Romania (2020)

Ádám, Valerián ; Bánfai, Zsolt ; Maász, Anita ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2020; 65(12): 1093-1103. Published 2020 Jul 11. doi: 10.1038/s10038-020-0799-6.

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Publication Date: 2020-07-11

Print ISSN: 1434-5161

Electronic ISSN: 1435-232X

Topics: Biology , Medicine

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ALG3-CDG: lethal phenotype and novel variants in Chinese siblings (2020)

Bian, Yue ; Qiao, Chong ; Zheng, ShuGuang ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2020; 65(12): 1129-1134. Published 2020 Jul 12. doi: 10.1038/s10038-020-0798-7.

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Publication Date: 2020-07-12

Print ISSN: 1434-5161

Electronic ISSN: 1435-232X

Topics: Biology , Medicine

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Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23) (2020)

Errichiello, Edoardo ; Zagnoli-Vieira, Guido ; Rizzi, Romana ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2020; 65(12): 1135-1141. Published 2020 Jul 10. doi: 10.1038/s10038-020-0800-4.

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Publication Date: 2020-07-10

Print ISSN: 1434-5161

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RNA sequencing-based microRNA expression signature in esophageal squamous cell carcinoma: oncogenic targets by antitumor miR-143-5p and miR-143-3p regulation (2020)

Wada, Masumi ; Goto, Yusuke ; Tanaka, Takako ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2020; 65(11): 1019-1034. Published 2020 Jul 04. doi: 10.1038/s10038-020-0795-x.

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Publication Date: 2020-07-04

Print ISSN: 1434-5161

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The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension (2007)

Bernard, Nathalie ; Girouard, Joël ; Forest, Jean-Claude ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2007; 52(3): 244-254. Published 2007 Feb 15. doi: 10.1007/s10038-006-0106-1.

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Publication Date: 2007-02-15

Print ISSN: 1434-5161

Electronic ISSN: 1435-232X

Topics: Biology , Medicine

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Lack of association of fragile histidine triad (FHIT) polymorphisms with lung cancer in the Korean population (2007)

Jung, Hae-Yun ; Sung, Jae Sook ; Whang, Young Mi ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2007; 52(8): 668-674. Published 2007 Jul 04. doi: 10.1007/s10038-007-0169-7.

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Publication Date: 2007-07-04

Print ISSN: 1434-5161

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Testing the hypothesis of an ancient Roman soldier origin of the Liqian people in northwest China: a Y-chromosome perspective (2007)

Zhou, Ruixia ; An, Lizhe ; Wang, Xunling ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2007; 52(7): 584-591. Published 2007 Jun 20. doi: 10.1007/s10038-007-0155-0.

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Publication Date: 2007-06-20

Print ISSN: 1434-5161

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Identification and characterization of human uracil phosphoribosyltransferase (UPRTase) (2007)

Li, Jixi ; Huang, Shengdong ; Chen, Jinzhong ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2007; 52(5): 415-422. Published 2007 Mar 24. doi: 10.1007/s10038-007-0129-2.

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Publication Date: 2007-03-24

Print ISSN: 1434-5161

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Topics: Biology , Medicine

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