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Volume 59; Issue 7
Main
Journal of Human Genetics
Volume 59; Issue 7
Journal of Human Genetics
Volume 59; Issue 7
1
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation
Noguchi, Masafumi
,
Honsho, Masanori
,
Abe, Yuichi
,
Toyama, Ryusuke
,
Niwa, Hajime
,
Sato, Yoshiteru
,
Ghaedi, Kamran
,
Rahmanifar, Ali
,
Shafeghati, Yousef
,
Fujiki, Yukio
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 1.00 MB
Your tags:
english, 2014
2
A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman’s syndrome patients
Tavira, Beatriz
,
Gómez, Juan
,
Santos, Fernando
,
Gil, Helena
,
Alvarez, Victoria
,
Coto, Eliecer
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 494 KB
Your tags:
english, 2014
3
Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection
Wang, Yanlin
,
Wen, Zujia
,
Shen, Jiawei
,
Cheng, Weiwei
,
Li, Jun
,
Qin, Xiaolan
,
Ma, Duan
,
Shi, Yongyong
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 272 KB
Your tags:
english, 2014
4
Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes
Fattahi, Zohreh
,
Rostami, Parvin
,
Najmabadi, Amin
,
Mohseni, Marzieh
,
Kahrizi, Kimia
,
Akbari, Mohammad Reza
,
Kariminejad, Ariana
,
Najmabadi, Hossein
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 1.46 MB
Your tags:
english, 2014
5
MTHFR gene polymorphism in acute lymphoblastic leukemia among North Indian children: a case–control study and meta-analysis updated from 2011
Roy Moulik, Nirmalya
,
Parveen, Farah
,
Kumar, Archana
,
Awasthi, Shally
,
Agrawal, Suraksha
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 1.51 MB
Your tags:
english, 2014
6
No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort
Fachal, Laura
,
Gómez-Caamaño, Antonio
,
Álvarez Iglesias, Vanesa
,
Gómez Carballa, Alberto
,
Calvo, Patricia
,
Salas, Antonio
,
Vega, Ana
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 502 KB
Your tags:
english, 2014
7
Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer
Freriksen, Jolien J M
,
Salomon, Jody
,
Roelofs, Hennie M J
,
te Morsche, Rene H M
,
van der Stappen, Jos W J
,
Dura, Polat
,
Witteman, Ben J M
,
Lacko, Martin
,
Peters, Wilbert H M
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 270 KB
Your tags:
english, 2014
8
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX
Shimbo, Hiroko
,
Ninomiya, Shinsuke
,
Kurosawa, Kenji
,
Wada, Takahito
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 407 KB
Your tags:
english, 2014
9
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome
Negishi, Yutaka
,
Hattori, Ayako
,
Takeshita, Eri
,
Sakai, Chika
,
Ando, Naoki
,
Ito, Tetsuya
,
Goto, Yu-ichi
,
Saitoh, Shinji
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 652 KB
Your tags:
english, 2014
10
Complete mitogenome analysis of indigenous populations in Mexico: its relevance for the origin of Mesoamericans
Mizuno, Fuzuki
,
Gojobori, Jun
,
Wang, Li
,
Onishi, Keisuke
,
Sugiyama, Saburo
,
Granados, Julio
,
Gomez-Trejo, Celta
,
Acuña-Alonzo, Víctor
,
Ueda, Shintaroh
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 1.39 MB
Your tags:
english, 2014
11
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation
Noguchi, Masafumi
,
Honsho, Masanori
,
Abe, Yuichi
,
Toyama, Ryusuke
,
Niwa, Hajime
,
Sato, Yoshiteru
,
Ghaedi, Kamran
,
Rahmanifar, Ali
,
Shafeghati, Yousef
,
Fujiki, Yukio
Journal:
Journal of Human Genetics
Year:
2014
File:
PDF, 59 KB
Your tags:
2014
12
The Indian origin of paternal haplogroup R1a1* substantiates the autochthonous origin of Brahmins and the caste system
Sharma, Swarkar
,
Rai, Ekta
,
Sharma, Prithviraj
,
Jena, Mamata
,
Singh, Shweta
,
Darvishi, Katayoon
,
Bhat, Audesh K
,
Bhanwer, A J S
,
Tiwari, Pramod Kumar
,
Bamezai, Rameshwar N K
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 94 KB
Your tags:
english, 2014
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