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Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 550, doi. 10.1111/cge.12550
By:
- McInerney‐Leo, A.M.;
- Harris, J.E.;
- Leo, P.J.;
- Marshall, M.S.;
- Gardiner, B.;
- Kinning, E.;
- Leong, H.Y.;
- McKenzie, F.;
- Ong, W.P.;
- Vodopiutz, J.;
- Wicking, C.;
- Brown, M.A.;
- Zankl, A.;
- Duncan, E.L.
Publication type:
Article
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.( Leu1877Pro) mutation in MYH2.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 573, doi. 10.1111/cge.12552
By:
- Cabrera‐Serrano, M.;
- Fabian, V.A.;
- Boutilier, J.;
- Wise, C.;
- Faiz, F.;
- Lamont, P.J.;
- Laing, N.G.
Publication type:
Article
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 542, doi. 10.1111/cge.12553
By:
- Yang, W.;
- Lee, P.P.W.;
- Thong, M.‐K.;
- Ramanujam, T.M.;
- Shanmugam, A.;
- Koh, M.‐T.;
- Chan, K.‐W.;
- Ying, D.;
- Wang, Y.;
- Shen, J.J.;
- Yang, J.;
- Lau, Y.L.
Publication type:
Article
Genetic counselors' ( GC) knowledge, awareness, understanding of clinical next-generation sequencing ( NGS) genomic testing.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 565, doi. 10.1111/cge.12555
By:
- Boland, P.M.;
- Ruth, K.;
- Matro, J.M.;
- Rainey, K.L.;
- Fang, C.Y.;
- Wong, Y.N.;
- Daly, M.B.;
- Hall, M.J.
Publication type:
Article
Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 584, doi. 10.1111/cge.12558
By:
- Souzeau, E.;
- Glading, J.;
- Ridge, B.;
- Wechsler, D.;
- Chehade, M.;
- Dubowsky, A.;
- Burdon, K.P.;
- Craig, J.E.
Publication type:
Article
Gene therapy for primary immunodeficiencies.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 507, doi. 10.1111/cge.12576
By:
- Fischer, A.;
- Hacein‐Bey Abina, S.;
- Touzot, F.;
- Cavazzana, M.
Publication type:
Article
Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 593, doi. 10.1111/cge.12595
By:
- Meloni, V.A.;
- Moysés‐Oliveira, M.;
- Melo, M.C.C.;
- Caneloi, T.P.;
- Dantas, A.G.;
- Soares, M.F.F.;
- Fock, R.;
- Rodrigues de Nicola, P.D.;
- Dias‐da‐Silva, M.R.;
- Melaragno, M.I.
Publication type:
Article
A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 579, doi. 10.1111/cge.12549
By:
- Tenorio, J.;
- Navas, P.;
- Barrios, E.;
- Fernández, L.;
- Nevado, J.;
- Quezada, C.A.;
- López‐Meseguer, M.;
- Arias, P.;
- Mena, R.;
- Lobo, J.L.;
- Alvarez, C.;
- Heath, K.;
- Escribano‐Subías, P.;
- Lapunzina, P.
Publication type:
Article
Regulator of dendritic cell migration, ASAP1 is associated with increased susceptibility to tuberculosis.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 530, doi. 10.1111/cge.12611
By:
- Waltl, S.
Publication type:
Article
PDGFRB mutation causes autosomal-dominant Penttinen syndrome.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 531, doi. 10.1111/cge.12680
By:
- Aminkeng, F.
Publication type:
Article
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 532, doi. 10.1111/cge.12681
By:
- Aminkeng, F.
Publication type:
Article
Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 533, doi. 10.1111/cge.12560
By:
- Rosenthal, E.T.;
- Bowles, K.R.;
- Pruss, D.;
- van Kan, A.;
- Vail, P.J.;
- McElroy, H.;
- Wenstrup, R.J.
Publication type:
Article
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 558, doi. 10.1111/cge.12561
By:
- Chardon, Jodi Warman;
- Smith, A.C.;
- Woulfe, J.;
- Pena, E.;
- Rakhra, K.;
- Dennie, C.;
- Beaulieu, C.;
- Huang, Lijia;
- Schwartzentruber, J.;
- Hawkins, C.;
- Harms, M.B.;
- Dojeiji, S.;
- Zhang, M.;
- Majewski, J.;
- Bulman, D.E.;
- Boycott, K.M.;
- Dyment, D.A.
Publication type:
Article
Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 523, doi. 10.1111/cge.12563
By:
- Scherr, C.L.;
- Lindor, N.M.;
- Malo, T.L.;
- Couch, F.J.;
- Vadaparampil, S.T.
Publication type:
Article
Ethical considerations of population screening for late-onset genetic disease.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 589, doi. 10.1111/cge.12566
By:
- Golden‐Grant, K.;
- Merritt, J.L.;
- Scott, C.R.
Publication type:
Article
Malignancy in Noonan syndrome and related disorders.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 516, doi. 10.1111/cge.12568
By:
- Smpokou, P.;
- Zand, D.J.;
- Rosenbaum, K.N.;
- Summar, M.L.
Publication type:
Article
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.
Published in:
Clinical Genetics, 2015, v. 88, n. 6, p. 597, doi. 10.1111/cge.12581
By:
- Williams, C.;
- Jiang, Y.‐H.;
- Shashi, V.;
- Crimian, R.;
- Schoch, K.;
- Harper, A.;
- McHale, D.;
- Goldstein, D.;
- Petrovski, S.
Publication type:
Article

Found: 17