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Volume 135; Issue 3
Main
Human Genetics
Volume 135; Issue 3
Human Genetics
Volume 135; Issue 3
1
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
Mlynarski, Elisabeth E.
,
Xie, Michael
,
Taylor, Deanne
,
Sheridan, Molly B.
,
Guo, Tingwei
,
Racedo, Silvia E.
,
McDonald-McGinn, Donna M.
,
Chow, Eva W. C.
,
Vorstman, Jacob
,
Swillen, Ann
,
Devriendt, Koen
,
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 924 KB
Your tags:
english, 2016
2
Clinical sequencing: is WGS the better WES?
Meienberg, Janine
,
Bruggmann, Rémy
,
Oexle, Konrad
,
Matyas, Gabor
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 408 KB
Your tags:
english, 2016
3
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis
Kim, Hui Ram
,
Oh, Se-Kyung
,
Lee, Eun-Shil
,
Choi, Soo-Young
,
Roh, Seung-Eon
,
Kim, Sang Jeong
,
Tsukihara, Tomitake
,
Lee, Kyu-Yup
,
Jeon, Chang-Jin
,
Kim, Un-Kyung
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 4.16 MB
Your tags:
english, 2016
4
A genome-wide association study of pulmonary tuberculosis in Morocco
Grant, A. V.
,
Sabri, A.
,
Abid, A.
,
Abderrahmani Rhorfi, I.
,
Benkirane, M.
,
Souhi, H.
,
Naji Amrani, H.
,
Alaoui-Tahiri, K.
,
Gharbaoui, Y.
,
Lazrak, F.
,
Sentissi, I.
,
Manessouri, M.
,
Belkheiri, S.
,
Zaid,
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 618 KB
Your tags:
english, 2016
5
Treatment of retinitis pigmentosa due toMERTKmutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial
Ghazi, Nicola G.
,
Abboud, Emad B.
,
Nowilaty, Sawsan R.
,
Alkuraya, Hisham
,
Alhommadi, Abdulrahman
,
Cai, Huimin
,
Hou, Rui
,
Deng, Wen-Tao
,
Boye, Sanford L.
,
Almaghamsi, Abdulrahman
,
Al Saikhan, Fahad
,
Al
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 1.77 MB
Your tags:
english, 2016
6
Improved prediction of complex diseases by common genetic markers: state of the art and further perspectives
Müller, Bent
,
Wilcke, Arndt
,
Boulesteix, Anne-Laure
,
Brauer, Jens
,
Passarge, Eberhard
,
Boltze, Johannes
,
Kirsten, Holger
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 893 KB
Your tags:
english, 2016
7
Resolving the ancestry of Austronesian-speaking populations
Soares, Pedro A.
,
Trejaut, Jean A.
,
Rito, Teresa
,
Cavadas, Bruno
,
Hill, Catherine
,
Eng, Ken Khong
,
Mormina, Maru
,
Brandão, Andreia
,
Fraser, Ross M.
,
Wang, Tse-Yi
,
Loo, Jun-Hun
,
Snell, Christopher
,
Ko,
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 3.08 MB
Your tags:
english, 2016
8
Phenotypic subregions within the split-hand/foot malformation 1 locus
Rasmussen, Malene B.
,
Kreiborg, Sven
,
Jensen, Per
,
Bak, Mads
,
Mang, Yuan
,
Lodahl, Marianne
,
Budtz-Jørgensen, Esben
,
Tommerup, Niels
,
Tranebjærg, Lisbeth
,
Rendtorff, Nanna D.
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 1.65 MB
Your tags:
english, 2016
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