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Volume 59; Issue 8
Main
Journal of Human Genetics
Volume 59; Issue 8
Journal of Human Genetics
Volume 59; Issue 8
1
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy
Santos, Rosário
,
Gonçalves, Ana
,
Oliveira, Jorge
,
Vieira, Emília
,
Vieira, José Pedro
,
Evangelista, Teresinha
,
Moreno, Teresa
,
Santos, Manuela
,
Fineza, Isabel
,
Bronze-da-Rocha, Elsa
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 1.30 MB
Your tags:
english, 2014
2
No association between Y chromosomal haplogroups and severe acne in the Han Chinese population
Guo, Mei-Hua
,
Wu, Wen-Juan
,
Fan, Long
,
Peng, Min-Sheng
,
Yang, Jian-Kang
,
Zhang, Wen
,
Hao, Fei
,
Xie, Hong-Fu
,
Xiang, Lei-Hong
,
Zheng, Min
,
Guo, Yan-Ni
,
Song, Qing-Hua
,
Tu, Cai-Xia
,
Zhong, Hua
,
Fan, Wen
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 300 KB
Your tags:
english, 2014
3
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy
Dwianingsih, Ery Kus
,
Malueka, Rusdy Ghazali
,
Nishida, Atsushi
,
Itoh, Kyoko
,
Lee, Tomoko
,
Yagi, Mariko
,
Iijima, Kazumoto
,
Takeshima, Yasuhiro
,
Matsuo, Masafumi
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 765 KB
Your tags:
english, 2014
4
A commentary on comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection
Samura, Osamu
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 103 KB
Your tags:
english, 2014
5
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss
Nakashima, Mitsuko
,
Takano, Kyoko
,
Osaka, Hitoshi
,
Aida, Noriko
,
Tsurusaki, Yoshinori
,
Miyake, Noriko
,
Saitsu, Hirotomo
,
Matsumoto, Naomichi
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 315 KB
Your tags:
english, 2014
6
Genetic variation of TBX21 gene increases risk of asthma and its severity in Indian children
Sharma, Neeraj
,
Jaiswal, Indu
,
Mandal, Raju K
,
Phadke, Shubha R
,
Awasthi, Shally
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 462 KB
Your tags:
english, 2014
7
Genetic variations in RORα are associated with chronic obstructive pulmonary disease
Yuan, Yiming
,
Hou, Xiaoming
,
Zhang, Jinlong
,
Chen, Yulong
,
Feng, Yulin
,
Su, Zhiguang
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 409 KB
Your tags:
english, 2014
8
Severe exacerbation of Andersen–Tawil syndrome secondary to thyrotoxicosis
Díaz-Manera, Jordi
,
Querol, Luis
,
Alejaldre, Aída
,
Rojas-García, Ricard
,
Ramos-Fransi, Alba
,
Gallardo, Eduard
,
Illa, Isabel
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 114 KB
Your tags:
english, 2014
9
A commentary on a novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy
Ishikawa, Yukitoshi
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 105 KB
Your tags:
english, 2014
10
Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy
Soumittra, Nagasamy
,
Loganathan, Sampath K
,
Madhavan, Dharanija
,
Ramprasad, Vedam L
,
Arokiasamy, Tharigopala
,
Sumathi, Sundaram
,
Karthiyayini, Thirumalai
,
Rachapalli, Sudhir R
,
Kumaramanickavel, Govin
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 1.35 MB
Your tags:
english, 2014
11
ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers
Norbnop, Phatchara
,
Srichomthong, Chalurmpon
,
Suphapeetiporn, Kanya
,
Shotelersuk, Vorasuk
Journal:
Journal of Human Genetics
Year:
2014
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 2014
12
Severe exacerbation of Andersen–Tawil syndrome secondary to thyrotoxicosis
Díaz-Manera, Jordi
,
Querol, Luis
,
Alejaldre, Aída
,
Rojas-García, Ricard
,
Ramos-Fransi, Alba
,
Gallardo, Eduard
,
Illa, Isabel
Journal:
Journal of Human Genetics
Year:
2014
File:
PDF, 59 KB
Your tags:
2014
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