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

Results: 21

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
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
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
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
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
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
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
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
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
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
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
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
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
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