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Volume 88; Issue 2
Main
Clinical Genetics
Volume 88; Issue 2
Clinical Genetics
Volume 88; Issue 2
1
Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking
Coutinho, M.F.
,
Lacerda, L.
,
Pinto, E.
,
Ribeiro, H.
,
Macedo-Ribeiro, S.
,
Castro, L.
,
Prata, M.J.
,
Alves, S.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 564 KB
Your tags:
english, 2015
2
Autism spectrum disorders: a qualitative study of attitudes toward prenatal genetic testing and termination decisions of affected pregnancies
Chen, L.S.
,
Xu, L.
,
Dhar, S.U.
,
Li, M.
,
Talwar, D.
,
Jung, E.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 192 KB
Your tags:
english, 2015
3
Genetics of sudden cardiac death in the young
Saenen, J.B.
,
Van Craenenbroeck, E.M.
,
Proost, D.
,
Marchau, F.
,
Van Laer, L.
,
Vrints, C.J.
,
Loeys, B.L.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 643 KB
Your tags:
english, 2015
4
Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing
Helsmoortel, C.
,
Vandeweyer, G.
,
Ordoukhanian, P.
,
Van Nieuwerburgh, F.
,
Van der Aa, N.
,
Kooy, R.F.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 396 KB
Your tags:
english, 2015
5
CHIPS for genetic testing to improve a regional clinical genetic service
Niida, Y.
,
Ozaki, M.
,
Inoue, M.
,
Takase, E.
,
Kuroda, M.
,
Mitani, Y.
,
Okumura, A.
,
Yokoi, A.
,
Fujita, S.
,
Yamada, K.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 1.21 MB
Your tags:
english, 2015
6
Characterization of large deletions in the DHCR7 gene
Lanthaler, B.
,
Hinderhofer, K.
,
Maas, B.
,
Haas, D.
,
Sawyer, H.
,
Burton-Jones, S.
,
Carter, K.
,
Suri, M.
,
Witsch-Baumgartner, M.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 815 KB
Your tags:
english, 2015
7
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance
Smid, B.E.
,
Hollak, C.E.M.
,
Poorthuis, B.J.H.M.
,
van den Bergh Weerman, M.A.
,
Florquin, S.
,
Kok, W.E.M.
,
Lekanne Deprez, R.H.
,
Timmermans, J.
,
Linthorst, G.E.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 1.04 MB
Your tags:
english, 2015
8
Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children
Chen, L.S.
,
Li, C.
,
Wang, C.H.
,
Amuta, A.
,
Li, M.
,
Huang, T.Y.
,
Dhar, S.U.
,
Talwar, D.
,
Jung, E.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 519 KB
Your tags:
english, 2015
9
Patient reported outcomes and patient empowerment in clinical genetics services
McAllister, M.
,
Dearing, A.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 531 KB
Your tags:
english, 2015
10
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population
Fedick, A.M.
,
Shi, L.
,
Jalas, C.
,
Treff, N.R.
,
Ekstein, J.
,
Kornreich, R.
,
Edelmann, L.
,
Mehta, L.
,
Savage, S.A.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 774 KB
Your tags:
english, 2015
11
Response to Cragun et al.
Kerr, I.D.
,
Nix, P.
,
Wenstrup, R.J.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 83 KB
Your tags:
english, 2015
12
Strategies for recruitment of relatives of BRCA mutation carriers to a genetic testing program in the Bahamas
Trottier, M.
,
Lunn, J.
,
Butler, R.
,
Curling, D.
,
Turnquest, T.
,
Royer, R.
,
Akbari, M.R.
,
Donenberg, T.
,
Hurley, J.
,
Narod, S.A.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 222 KB
Your tags:
english, 2015
13
BRCA1 genetic testing in a Pakistani breast-ovarian cancer family with multiple consanguineous marriages
Rashid, M. U.
,
Muhammad, N.
,
Iqbal, K.
,
Yusuf, H. A.
,
Hamann, U.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 121 KB
Your tags:
english, 2015
14
Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy
Drögemöller, B. I.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 379 KB
Your tags:
english, 2015
15
Prostate cancer in a man with a BRCA2 mutation and a personal history of bilateral breast cancer
Singer, C. F.
,
Rappaport-Fuerhauser, C.
,
Sopik, V.
,
Narod, S. A.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 111 KB
Your tags:
english, 2015
16
Response to Cragun et al.
Chao, E.
,
Dolinsky, J.
,
Pal, T.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2015
17
Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study
Machida, J.
,
Nishiyama, T.
,
Kishino, H.
,
Yamaguchi, S.
,
Kimura, M.
,
Shibata, A.
,
Tatematsu, T.
,
Kamamoto, M.
,
Yamamoto, K.
,
Makino, S.
,
Miyachi, H.
,
Shimozato, K.
,
Tokita, Y.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 124 KB
Your tags:
english, 2015
18
A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy
Lopez-Ayala, J. M.
,
Ortiz-Genga, M.
,
Gomez-Milanes, I.
,
Lopez-Cuenca, D.
,
Ruiz-Espejo, F.
,
Sanchez-Munoz, J. J.
,
Oliva-Sandoval, M. J.
,
Monserrat, L.
,
Gimeno, J. R.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 829 KB
Your tags:
english, 2015
19
Homozygosity mapping reveals founder SEC23B -Y462C mutations in Indian congenital dyserythropoietic anemia type II
Singleton, B.
,
Bansal, D.
,
Varma, N.
,
Das, R.
,
Naseem, S.
,
Saikia, U.N.
,
Malhotra, P.
,
Varma, S.
,
Marwaha, R.K.
,
King, M.-J.
,
Ahmed, M.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 474 KB
Your tags:
english, 2015
20
Warfarin pharmacogenetics in the era of new oral anticoagulants
Wright, G.E.B.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 1.01 MB
Your tags:
english, 2015
21
Mutations in SLC6A17 cause autosomal-recessive intellectual disability
Waltl, S.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 176 KB
Your tags:
english, 2015
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