Works matching IS 00099163 AND DT 2016 AND VI 89 AND IP 2

Results: 21

Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 258, doi. 10.1111/cge.12629

By:

Lingen, M.;
Albers, L.;
Borchers, M.;
Haass, S.;
Gärtner, J.;
Schröder, S.;
Goldbeck, L.;
von Kries, R.;
Brockmann, K.;
Zirn, B.

Publication type:

Article

Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 163, doi. 10.1111/cge.12573

By:

Zhang, J.;
Barbaro, P.;
Guo, Y.;
Alodaib, A.;
Li, J.;
Gold, W.;
Adès, L.;
Keating, B.J.;
Xu, X.;
Teo, J.;
Hakonarson, H.;
Christodoulou, J.

Publication type:

Article

Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 187, doi. 10.1111/cge.12622

By:

Haghighi, A.;
Borhany, M.;
Ghazi, A.;
Edwards, N.;
Tabaksert, A.;
Fatima, N.;
Shamsi, T.S.;
Sayer, J.A.

Publication type:

Article

Are physicians prepared for whole genome sequencing? a qualitative analysis.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 228, doi. 10.1111/cge.12626

By:

Christensen, K.D.;
Vassy, J.L.;
Jamal, L.;
Lehmann, L.S.;
Slashinski, M.J.;
Perry, D.L.;
Robinson, J.O.;
Blumenthal‐Barby, J.;
Feuerman, L.Z.;
Murray, M.F.;
Green, R.C.;
McGuire, A.L.

Publication type:

Article

Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 251, doi. 10.1111/cge.12577

By:

Robinson, C.L.;
Jouni, H.;
Kruisselbrink, T.M.;
Austin, E.E.;
Christensen, K.D.;
Green, R.C.;
Kullo, I.J.

Publication type:

Article

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 267, doi. 10.1111/cge.12672

By:

Grandval, P.;
Fabre, A.J.;
Béroud, C.;
Olschwang, S.

Publication type:

Article

Sixteenth-century German woodcut of a male infant with possible disorganization.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 269, doi. 10.1111/cge.12643

By:

Heyne, T.F.;
Robin, N.H.;
Lin, A.E.

Publication type:

Article

Diagnostic pitfall in antenatal manifestations of CPT II deficiency.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 193, doi. 10.1111/cge.12593

By:

Boemer, F.;
Deberg, M.;
Schoos, R.;
Caberg, J.‐H.;
Gaillez, S.;
Dugauquier, C.;
Delbecque, K.;
François, A.;
Maton, P.;
Demonceau, N.;
Senterre, G.;
Ferdinandusse, S.;
Debray, F.‐G.

Publication type:

Article

NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. E1, doi. 10.1111/cge.12648

By:

Conroy, J.;
Allen, N.M.;
Gorman, K. M.;
Shahwan, A.;
Ennis, S.;
Lynch, S.A.;
King, M.D.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2016, v. 89, n. 2, p. 139, doi. 10.1111/cge.12660
Publication type:: Article

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 182, doi. 10.1111/cge.12612

By:

Heimdal, K.;
Dalhus, B.;
Rødningen, O.K.;
Kroken, M.;
Eiklid, K.;
Dheyauldeen, S.;
Røysland, T.;
Andersen, R.;
Kulseth, M.A.

Publication type:

Article

Measuring genetic knowledge: a brief survey instrument for adolescents and adults.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 235, doi. 10.1111/cge.12618

By:

Fitzgerald‐Butt, S. M.;
Bodine, A.;
Fry, K. M.;
Ash, J.;
Zaidi, A. N.;
Garg, V.;
Gerhardt, C. A.;
McBride, K. L.

Publication type:

Article

Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 222, doi. 10.1111/cge.12682

By:

Seo, J.Y.;
Lee, K.‐O.;
Yoo, K.‐H.;
Sung, K.‐W.;
Koo, H.H.;
Kim, S.‐H.;
Kang, H.J.;
Park, K.‐D.;
Shin, H.Y.;
Baek, H.‐J.;
Kook, H.;
Lyu, C.J.;
Song, J.‐S.;
Lee, M.J.;
Kim, J.‐Y.;
Lim, Y.‐T.;
Koh, K.‐N.;
Im, H.J.;
Seo, J.J.;
Kim, H.‐J.

Publication type:

Article

Practical considerations in the clinical application of whole-exome sequencing.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 173, doi. 10.1111/cge.12569

By:

Shashi, V.;
McConkie‐Rosell, A.;
Schoch, K.;
Kasturi, V.;
Rehder, C.;
Jiang, Y.H.;
Goldstein, D.B.;
McDonald, M.T.

Publication type:

Article

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 198, doi. 10.1111/cge.12636

By:

Dimassi, S.;
Labalme, A.;
Ville, D.;
Calender, A.;
Mignot, C.;
Boutry‐Kryza, N.;
de Bellescize, J.;
Rivier‐Ringenbach, C.;
Bourel‐Ponchel, E.;
Cheillan, D.;
Simonet, T.;
Maincent, K.;
Rossi, M.;
Till, M.;
Mougou‐Zerelli, S.;
Edery, P.;
Saad, A.;
Heron, D.;
des Portes, V.;
Sanlaville, D.

Publication type:

Article

Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 244, doi. 10.1111/cge.12601

By:

Krabbenborg, L.;
Schieving, J.;
Kleefstra, T.;
Vissers, L.E.L.M.;
Willemsen, M.A.;
Veltman, J.A.;
van der Burg, S.

Publication type:

Article

Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 210, doi. 10.1111/cge.12657

By:

Elsaid, M.F.;
Chalhoub, N.;
Kamel, H.;
Ehlayel, M.;
Ibrahim, N.;
Elsaid, A.;
Kumar, P.;
Khalak, H.;
Ilyin, V.A.;
Suhre, K.;
Abdel Aleem, A.

Publication type:

Article

Diagnosis and treatment of inherited thrombocytopenias.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 141, doi. 10.1111/cge.12603

By:

Pecci, A.

Publication type:

Article

Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 205, doi. 10.1111/cge.12655

By:

He, Wen‐Tao;
Chen, Chen;
Pan, Chu;
Zhang, Mu‐Xun;
Yu, Xue‐Feng;
Wang, Dao‐Wen;
Hu, Shu‐Hong

Publication type:

Article

Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 217, doi. 10.1111/cge.12658

By:

Alcántara‐Montiel, J.C.;
Staines‐Boone, T.;
López‐Herrera, G.;
Espinosa‐Rosales, F.;
Espinosa‐Padilla, S.E.;
Hernández‐Rivas, R.;
Santos‐Argumedo, L.

Publication type:

Article

Molecular basis of inherited thrombocytopenias.

Published in:

Clinical Genetics, 2016, v. 89, n. 2, p. 154, doi. 10.1111/cge.12607

By:

Savoia, A.

Publication type:

Article