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Beneficial metabolic phenotypes caused by loss-of-function APOC3 mutations.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 31, doi. 10.1111/cge.12483
By:
- Gibson, W. T.
Publication type:
Article
Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 11, doi. 10.1111/cge.12436
By:
- Cook, J.R.;
- Carta, L.;
- Galatioto, J.;
- Ramirez, F.
Publication type:
Article
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 74, doi. 10.1111/cge.12330
By:
- Al‐Aama, J.Y.;
- Al‐Ghamdi, S.;
- Bdier, A.Y.;
- AlQarawi, A.;
- Jiman, O.A.;
- Al‐Aama, N.;
- Al‐Aata, J.;
- Wilde, A.A.M.;
- Bhuiyan, Z.A.
Publication type:
Article
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 49, doi. 10.1111/cge.12332
By:
- Vona, B.;
- Hofrichter, M.A.H.;
- Neuner, C.;
- Schröder, J.;
- Gehrig, A.;
- Hennermann, J.B.;
- Kraus, F.;
- Shehata‐Dieler, W.;
- Klopocki, E.;
- Nanda, I.;
- Haaf, T.
Publication type:
Article
SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 85, doi. 10.1111/cge.12336
By:
- Liao, X.;
- Luo, Y.;
- Zhan, Z.;
- Du, J.;
- Hu, Z.;
- Wang, J.;
- Guo, J.;
- Yan, X.;
- Pan, Q.;
- Xia, K.;
- Tang, B.;
- Shen, L.
Publication type:
Article
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 34, doi. 10.1111/cge.12401
By:
- Roifman, M.;
- Marcelis, C.L.M.;
- Paton, T.;
- Marshall, C.;
- Silver, R.;
- Lohr, J.L.;
- Yntema, H.G.;
- Venselaar, H.;
- Kayserili, H.;
- van Bon, B.;
- Seaward, G.;
- Brunner, H.G.;
- Chitayat, D.
Publication type:
Article
Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 42, doi. 10.1111/cge.12402
By:
- Yuste‐Checa, P.;
- Medrano, C.;
- Gámez, A.;
- Desviat, L.R.;
- Matthijs, G.;
- Ugarte, M.;
- Pérez‐Cerdá, C.;
- Pérez, B.
Publication type:
Article
DYRK1B variant linked to autosomal dominant metabolic syndrome.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 30, doi. 10.1111/cge.12477
By:
- Hickmott, J.
Publication type:
Article
Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 32, doi. 10.1111/cge.12495
By:
- Tay, Y.‐L.
Publication type:
Article
Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 56, doi. 10.1111/cge.12325
By:
- Hijazi, H.;
- Salih, M.A.;
- Hamad, M.H.A.;
- Hassan, H.H.;
- Salih, S.B.M.;
- Mohamed, K.A.;
- Mukhtar, M.M.;
- Karrar, Z.A.;
- Ansari, S.;
- Ibrahim, N.;
- Alkuraya, F.S.
Publication type:
Article
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 62, doi. 10.1111/cge.12326
By:
- Warang, P.P.;
- Kedar, P.S.;
- Shanmukaiah, C.;
- Ghosh, K.;
- Colah, R.B.
Publication type:
Article
Array- CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 80, doi. 10.1111/cge.12328
By:
- Gandomi, S.K.;
- Parra, M.;
- Reeves, D.;
- Yap, V.;
- Gau, C.‐L.
Publication type:
Article
Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 68, doi. 10.1111/cge.12329
By:
- Fernandes‐Lima, Z.S.;
- Paixão‐Côrtes, V.R.;
- de Andrade, A.K.M.;
- Fernandes, A.S.;
- Coronado, B.N.L.;
- Monte Filho, H.P.;
- Santos, M.J.;
- de Omena Filho, R.L.;
- Biondi, F.C.;
- Ruiz‐Linares, A.;
- Ramallo, V.;
- Hünemeier, T.;
- Schuler‐Faccini, L.;
- Monlleó, I.L.
Publication type:
Article
Preferences for results from genomic microarrays: comparing parents and health care providers.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 21, doi. 10.1111/cge.12398
By:
- Turbitt, E.;
- Halliday, J.L.;
- Amor, D.J.;
- Metcalfe, S.A.
Publication type:
Article
Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 90, doi. 10.1111/cge.12340
By:
- Lee, K.‐E.;
- Ko, J.;
- Le, C.G. Tran;
- Shin, T.J.;
- Hyun, H.‐K.;
- Lee, S.‐H.;
- Kim, J.‐W.
Publication type:
Article
Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 93, doi. 10.1111/cge.12341
By:
- Ma, L.‐Y.;
- Wang, L.;
- Yang, Y.‐M.;
- Lu, Y.;
- Cheng, F.‐B.;
- Wan, X.‐H.
Publication type:
Article
Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 96, doi. 10.1111/cge.12346
By:
- Neřoldová, M.;
- Fraňková, S.;
- Stránecký, V.;
- Honsová, E.;
- Lukšan, O.;
- Beneš, M.;
- Michalová, K.;
- Kmoch, S.;
- Jirsa, M.
Publication type:
Article
Cross-border reprogenetic services.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 1, doi. 10.1111/cge.12418
By:
- Couture, V.;
- Drouin, R.;
- Tan, S.‐L.;
- Moutquin, J.‐M.;
- Bouffard, C.
Publication type:
Article

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