Works matching IS 00099163 AND DT 2015 AND VI 88 AND IP 2

Results: 21

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 161, doi. 10.1111/cge.12449

By:

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.

Publication type:

Article

A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 172, doi. 10.1111/cge.12458

By:

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.

Publication type:

Article

Response to Cragun et al.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 200, doi. 10.1111/cge.12510

By:

Kerr, I.D.;
Nix, P.;
Wenstrup, R.J.

Publication type:

Article

Characterization of large deletions in the DHCR7 gene.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 149, doi. 10.1111/cge.12454

By:

Lanthaler, B.;
Hinderhofer, K.;
Maas, B.;
Haas, D.;
Sawyer, H.;
Burton‐Jones, S.;
Carter, K.;
Suri, M.;
Witsch‐Baumgartner, M.

Publication type:

Article

Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 140, doi. 10.1111/cge.12470

By:

Helsmoortel, C.;
Vandeweyer, G.;
Ordoukhanian, P.;
Van Nieuwerburgh, F.;
Van der Aa, N.;
Kooy, R.F.

Publication type:

Article

Prostate cancer in a man with a BRCA2 mutation and a personal history of bilateral breast cancer.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 187, doi. 10.1111/cge.12478

By:

Singer, C. F.;
Rappaport‐Fuerhauser, C.;
Sopik, V.;
Narod, S. A.

Publication type:

Article

Mutations in SLC6A17 cause autosomal-recessive intellectual disability.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 136, doi. 10.1111/cge.12610

By:

Waltl, S.

Publication type:

Article

Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 137, doi. 10.1111/cge.12615

By:

Drögemöller, B. I.

Publication type:

Article

Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 129, doi. 10.1111/cge.12514

By:

Chen, L.S.;
Li, C.;
Wang, C.H.;
Amuta, A.;
Li, M.;
Huang, T.Y.;
Dhar, S.U.;
Talwar, D.;
Jung, E.

Publication type:

Article

Response to Cragun et al.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 201, doi. 10.1111/cge.12512

By:

Chao, E.;
Dolinsky, J.;
Pal, T.

Publication type:

Article

CHIPS for genetic testing to improve a regional clinical genetic service.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 155, doi. 10.1111/cge.12463

By:

Niida, Y.;
Ozaki, M.;
Inoue, M.;
Takase, E.;
Kuroda, M.;
Mitani, Y.;
Okumura, A.;
Yokoi, A.;
Fujita, S.;
Yamada, K.

Publication type:

Article

Genetics of sudden cardiac death in the young.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 101, doi. 10.1111/cge.12519

By:

Saenen, J.B.;
Van Craenenbroeck, E.M.;
Proost, D.;
Marchau, F.;
Van Laer, L.;
Vrints, C.J.;
Loeys, B.L.

Publication type:

Article

Strategies for recruitment of relatives of BRCA mutation carriers to a genetic testing program in the Bahamas.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 182, doi. 10.1111/cge.12468

By:

Trottier, M.;
Lunn, J.;
Butler, R.;
Curling, D.;
Turnquest, T.;
Royer, R.;
Akbari, M.R.;
Donenberg, T.;
Hurley, J.;
Narod, S.A.

Publication type:

Article

Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 190, doi. 10.1111/cge.12469

By:

Coutinho, M.F.;
Lacerda, L.;
Pinto, E.;
Ribeiro, H.;
Macedo‐Ribeiro, S.;
Castro, L.;
Prata, M.J.;
Alves, S.

Publication type:

Article

Warfarin pharmacogenetics in the era of new oral anticoagulants.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 135, doi. 10.1111/cge.12609

By:

Wright, G.E.B.

Publication type:

Article

BRCA1 genetic testing in a Pakistani breast-ovarian cancer family with multiple consanguineous marriages.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 198, doi. 10.1111/cge.12533

By:

Rashid, M. U.;
Muhammad, N.;
Iqbal, K.;
Yusuf, H. A.;
Hamann, U.

Publication type:

Article

Autism spectrum disorders: a qualitative study of attitudes toward prenatal genetic testing and termination decisions of affected pregnancies.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 122, doi. 10.1111/cge.12504

By:

Chen, L.S.;
Xu, L.;
Dhar, S.U.;
Li, M.;
Talwar, D.;
Jung, E.

Publication type:

Article

Patient reported outcomes and patient empowerment in clinical genetics services.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 114, doi. 10.1111/cge.12520

By:

McAllister, M.;
Dearing, A.

Publication type:

Article

Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 167, doi. 10.1111/cge.12456

By:

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.

Publication type:

Article

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 177, doi. 10.1111/cge.12459

By:

Fedick, A.M.;
Shi, L.;
Jalas, C.;
Treff, N.R.;
Ekstein, J.;
Kornreich, R.;
Edelmann, L.;
Mehta, L.;
Savage, S.A.

Publication type:

Article

Homozygosity mapping reveals founder SEC23B- Y462C mutations in Indian congenital dyserythropoietic anemia type II.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 195, doi. 10.1111/cge.12527

By:

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.

Publication type:

Article