Works matching IS 00099163 AND DT 2013 AND VI 84 AND IP 5

Results: 14

Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 496, doi. 10.1111/cge.12018

By:

Leslie, EJ;
Murray, JC

Publication type:

Article

Association of HLA locus variant in Parkinson's disease.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 501, doi. 10.1111/cge.12024

By:

Zhao, Y;
Gopalai, AA;
Ahmad‐Annuar, A;
Teng, EWL;
Prakash, KM;
Tan, LCS;
Au, W‐L;
Li, H‐H;
Lim, S‐Y;
Lim, SK;
Chong, YB;
Tan, LP;
Ibrahim, NM;
Tan, E‐K

Publication type:

Article

Pathogenic variants in non-protein-coding sequences.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 422, doi. 10.1111/cge.12272

By:

Makrythanasis, P;
Antonarakis, SE

Publication type:

Article

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 489, doi. 10.1111/cge.12126

By:

Risgaard, B;
Jabbari, R;
Refsgaard, L;
Holst, AG;
Haunsø, S;
Sadjadieh, A;
Winkel, BG;
Olesen, MS;
Tfelt‐Hansen, J

Publication type:

Article

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 441, doi. 10.1111/cge.12151

By:

Borràs, E;
de Sousa Dias, M;
Hernan, I;
Pascual, B;
Mañé, B;
Gamundi, MJ;
Delás, B;
Carballo, M

Publication type:

Article

The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 482, doi. 10.1111/cge.12016

By:

Kaupert, LC;
Lemos‐Marini, SHV;
De Mello, MP;
Moreira, RP;
Brito, VN;
Jorge, AAL;
Longui, CA;
Guerra, G;
Mendonca, BB;
Bachega, TA

Publication type:

Article

cDNA analysis of the BRCA1 unclassified variant c.5194- 12G> A.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 505, doi. 10.1111/cge.12052

By:

Wong‐Brown, MW;
McPhillips, ML;
Hipwell, M;
Pecenpetelovska, G;
Dooley, S;
Meldrum, C;
Scott, RJ

Publication type:

Article

Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 473, doi. 10.1111/cge.12202

By:

Schilter, KF;
Reis, LM;
Schneider, A;
Bardakjian, TM;
Abdul‐Rahman, O;
Kozel, BA;
Zimmerman, HH;
Broeckel, U;
Semina, EV

Publication type:

Article

Funding considerations for the disclosure of genetic incidental findings in biobank research.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 397, doi. 10.1111/cge.12190

By:

Black, L;
Avard, D;
Zawati, MH;
Knoppers, BM;
Hébert, J;
Sauvageau, G

Publication type:

Article

Pathogenic or not? Assessing the clinical relevance of copy number variants.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 415, doi. 10.1111/cge.12242

By:

Hehir‐Kwa, JY;
Pfundt, R;
Veltman, JA;
de Leeuw, N

Publication type:

Article

A systematic approach to assessing the clinical significance of genetic variants.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 453, doi. 10.1111/cge.12257

By:

Duzkale, H;
Shen, J;
McLaughlin, H;
Alfares, A;
Kelly, MA;
Pugh, TJ;
Funke, BH;
Rehm, HL;
Lebo, MS

Publication type:

Article

The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 407, doi. 10.1111/cge.12256

By:

Hilbers, FSM;
Vreeswijk, MPG;
van Asperen, CJ;
Devilee, P

Publication type:

Article

Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 429, doi. 10.1111/cge.12061

By:

Mostowska, A;
Biedziak, B;
Zadurska, M;
Dunin‐Wilczynska, I;
Lianeri, M;
Jagodzinski, PP

Publication type:

Article

Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 464, doi. 10.1111/cge.12097

By:

Culver, JO;
Brinkerhoff, CD;
Clague, J;
Yang, K;
Singh, KE;
Sand, SR;
Weitzel, JN

Publication type:

Article