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Hematopoietically expressed homeobox ( HHEX) gene polymorphism (rs5015480) is associated with increased risk of gestational diabetes mellitus.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 843, doi. 10.1111/cge.12875
By:
- Tarnowski, M.;
- Malinowski, D.;
- Safranow, K.;
- Dziedziejko, V.;
- Czerewaty, M.;
- Pawlik, A.
Publication type:
Article
A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 924, doi. 10.1111/cge.12879
By:
- Fiore, M.;
- Goulas, C.;
- Pillois, X.
Publication type:
Article
A practical approach to ichthyoses with systemic manifestations.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 799, doi. 10.1111/cge.12828
By:
- Saral, S.;
- Vural, A.;
- Wollenberg, A.;
- Ruzicka, T.
Publication type:
Article
Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at-risk observational study ( PHAROS).
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 824, doi. 10.1111/cge.12893
By:
- Quaid, K.A.;
- Eberly, S.W.;
- Kayson‐Rubin, E.;
- Oakes, D.;
- Shoulson, I.
Publication type:
Article
Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 929, doi. 10.1111/cge.12899
By:
- Vivero, M.;
- Cho, M.T.;
- Begtrup, A.;
- Wentzensen, I.M.;
- Walsh, L.;
- Payne, K.;
- Zarate, Y.A.;
- Bosanko, K.;
- Schaefer, G.B.;
- DeBrosse, S.;
- Pollack, L.;
- Mason, K.;
- Retterer, K.;
- DeWard, S.;
- Juusola, J.;
- Chung, W.K.
Publication type:
Article
Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 881, doi. 10.1111/cge.12913
By:
- Liu, L.;
- Li, X.B.;
- Hu, Z.H.M.;
- Zi, X.H.;
- Zhao, X.;
- Xie, Y.Z.;
- Huang, S.H.X.;
- Xia, K.;
- Tang, B.S.;
- Zhang, R.X.
Publication type:
Article
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss ( DFNA1).
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 892, doi. 10.1111/cge.12915
By:
- Neuhaus, C.;
- Lang‐Roth, R.;
- Zimmermann, U.;
- Heller, R.;
- Eisenberger, T.;
- Weikert, M.;
- Markus, S.;
- Knipper, M.;
- Bolz, H.J.
Publication type:
Article
Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 902, doi. 10.1111/cge.12916
By:
- Weisz Hubshman, M.;
- Basel‐Vanagaite, L.;
- Krauss, A.;
- Konen, O.;
- Levy, Y.;
- Garty, B.Z.;
- Smirin‐Yosef, P.;
- Maya, I.;
- Lagovsky, I.;
- Taub, E.;
- Marom, D.;
- Gaash, D.;
- Shichrur, K.;
- Avigad, S.;
- Hayman‐Manzur, L.;
- Villa, A.;
- Sobacchi, C.;
- Shohat, M.;
- Yaniv, I.;
- Stein, J.
Publication type:
Article
Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 913, doi. 10.1111/cge.12930
By:
- Orenstein, N.;
- Weiss, K.;
- Oprescu, S.N.;
- Shapira, R.;
- Kidron, D.;
- Vanagaite‐Basel, L.;
- Antonellis, A.;
- Muenke, M.
Publication type:
Article
Issue Information - Editorial Board.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 797, doi. 10.1111/cge.12939
Publication type:
Article
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 908, doi. 10.1111/cge.12918
By:
- Lefebvre, M.;
- Duffourd, Y.;
- Jouan, T.;
- Poe, C.;
- Jean‐Marçais, N.;
- Verloes, A.;
- St‐Onge, J.;
- Riviere, J.‐B.;
- Petit, F.;
- Pierquin, G.;
- Demeer, B.;
- Callier, P.;
- Thauvin‐Robinet, C.;
- Faivre, L.;
- Thevenon, J.
Publication type:
Article
Association of a type 2 diabetes genetic risk score with insulin secretion modulated by insulin sensitivity among Chinese Hans.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 832, doi. 10.1111/cge.12817
By:
- Kong, X.;
- Xing, X.;
- Hong, J.;
- Zhang, X.;
- Yang, W.
Publication type:
Article
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 918, doi. 10.1111/cge.12931
By:
- Verrigni, D.;
- Diodato, D.;
- Di Nottia, M.;
- Torraco, A.;
- Bellacchio, E.;
- Rizza, T.;
- Tozzi, G.;
- Verardo, M.;
- Piemonte, F.;
- Tasca, G.;
- D'Amico, A.;
- Bertini, E.;
- Carrozzo, R.
Publication type:
Article
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 868, doi. 10.1111/cge.12885
By:
- Ranza, E.;
- Huber, C.;
- Levin, N.;
- Baujat, G.;
- Bole‐Feysot, C.;
- Nitschke, P.;
- Masson, C.;
- Alanay, Y.;
- Al‐Gazali, L.;
- Bitoun, P.;
- Boute, O.;
- Campeau, P.;
- Coubes, C.;
- McEntagart, M.;
- Elcioglu, N.;
- Faivre, L.;
- Gezdirici, A.;
- Johnson, D.;
- Mihci, E.;
- Nur, B.G.
Publication type:
Article
Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Na <sub>v</sub>1.4 cause periodic paralysis.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 859, doi. 10.1111/cge.12880
By:
- Fan, C.;
- Mao, N.;
- Lehmann‐Horn, F.;
- Bürmann, J.;
- Jurkat‐Rott, K.
Publication type:
Article
Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 932, doi. 10.1111/cge.12902
By:
- Takahashi, S.;
- Matsufuji, M.;
- Yonee, C.;
- Tsuru, H.;
- Sano, N.;
- Oguni, H.
Publication type:
Article
Molecular characterization of PI*Q0<sub>la palma</sub>, a new alpha-1-antitrypsin null allele that combines two defective genetic variants.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 927, doi. 10.1111/cge.12889
By:
- Hernández‐Pérez, J.M.;
- Ramos‐Díaz, R.;
- Fumero‐García, S.;
- Pérez, J.A.
Publication type:
Article
Genetics of syndromic and non-syndromic hereditary nail disorders.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 813, doi. 10.1111/cge.12852
By:
- Bergqvist, C.;
- Ramia, P.;
- Abbas, O.;
- Kurban, M.
Publication type:
Article
Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 849, doi. 10.1111/cge.12926
By:
- Wang, Y.;
- Cheng, Q.;
- Meng, L.;
- Luo, C.;
- Hu, H.;
- Zhang, J.;
- Cheng, J.;
- Xu, T.;
- Jiang, T.;
- Liang, D.;
- Hu, P.;
- Xu, Z.
Publication type:
Article

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