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Volume 57; Issue 9
Main
Journal of Human Genetics
Volume 57; Issue 9
Journal of Human Genetics
Volume 57; Issue 9
1
Mitochondrial haplogroup C in ancient mitochondrial DNA from Ukraine extends the presence of East Eurasian genetic lineages in Neolithic Central and Eastern Europe
Nikitin, Alexey G
,
Newton, Jeremy R
,
Potekhina, Inna D
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 203 KB
Your tags:
english, 2012
2
Patient-derived iPS cells for unveiling the molecular pathology of Pelizaeus-Merzbacher disease: a commentary on ‘Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication’
Inoue, Ken
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 133 KB
Your tags:
english, 2012
3
Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication
Shimojima, Keiko
,
Inoue, Takahito
,
Imai, Yuki
,
Arai, Yasuhiro
,
Komoike, Yuta
,
Sugawara, Midori
,
Fujita, Takako
,
Ideguchi, Hiroshi
,
Yasumoto, Sawa
,
Kanno, Hitoshi
,
Hirose, Shinichi
,
Yamamoto, Toshiyuki
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 537 KB
Your tags:
english, 2012
4
Admixture and population structure in Mexican-Mestizos based on paternal lineages
Martínez-Cortés, Gabriela
,
Salazar-Flores, Joel
,
Gabriela Fernández-Rodríguez, Laura
,
Rubi-Castellanos, Rodrigo
,
Rodríguez-Loya, Carmen
,
Velarde-Félix, Jesús Salvador
,
Franciso Muñoz-Valle, José
,
Parr
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 424 KB
Your tags:
english, 2012
5
The functional significance of microRNA-375 in human squamous cell carcinoma: aberrant expression and effects on cancer pathways
Kinoshita, Takashi
,
Hanazawa, Toyoyuki
,
Nohata, Nijiro
,
Okamoto, Yoshitaka
,
Seki, Naohiko
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 453 KB
Your tags:
english, 2012
6
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study
Hofer, Harald
,
Willheim-Polli, Claudia
,
Knoflach, Peter
,
Gabriel, Christian
,
Vogel, Wolfgang
,
Trauner, Michael
,
Müller, Thomas
,
Ferenci, Peter
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 233 KB
Your tags:
english, 2012
7
Four novel C20orf54 mutations identified in Brown–Vialetto–Van Laere syndrome patients
Dezfouli, Mitra Ansari
,
Yadegari, Samira
,
Nafissi, Shahriar
,
Elahi, Elahe
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 322 KB
Your tags:
english, 2012
8
Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination
Shimojima, Keiko
,
Okamoto, Nobuhiko
,
Suzuki, Yume
,
Saito, Mari
,
Mori, Masato
,
Yamagata, Tatanori
,
Momoi, Mariko Y
,
Hattori, Hideji
,
Okano, Yoshiyuki
,
Hisata, Ken
,
Okumura, Akihisa
,
Yamamoto, Toshiyuki
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 699 KB
Your tags:
english, 2012
9
TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion
Moteki, Hideaki
,
Nishio, Shin-ya
,
Hashimoto, Shigenari
,
Takumi, Yutaka
,
Iwasaki, Satoshi
,
Takeichi, Norihito
,
Fukuda, Satoshi
,
Usami, Shin-ichi
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 428 KB
Your tags:
english, 2012
10
A novel test of informative missingness using inconsistent linkage disequilibrium signals between case-parent triads and incomplete data
Guo, Chao-Yu
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 364 KB
Your tags:
english, 2012
11
A Commentary on ‘Four novel C20ORF54 mutations identified in Brown–Vialetto–Van Laere syndrome patients.’
Houlden, Henry
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 76 KB
Your tags:
english, 2012
12
High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients
Doi, Kent
,
Noiri, Eisei
,
Ishizu, Tomoko
,
Negishi, Kousuke
,
Suzuki, Yoshifumi
,
Hamasaki, Yoshifumi
,
Honda, Kenjiro
,
Fujita, Toshiro
,
Tsukimura, Takahiro
,
Togawa, Tadayasu
,
Saito, Seiji
,
Sakuraba, Hitos
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 442 KB
Your tags:
english, 2012
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