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There are 4025 results for: content related to: Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss

  1. Coffin–Siris syndrome is a SWI/SNF complex disorder

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 548–554, Y. Tsurusaki, N. Okamoto, H. Ohashi, S. Mizuno, N. Matsumoto, Y. Makita, M. Fukuda, B. Isidor, J. Perrier, S. Aggarwal, A.B. Dalal, A. Al-Kindy, J. Liebelt, D. Mowat, M. Nakashima, H. Saitsu, N. Miyake and N. Matsumoto

    Version of Record online : 23 JUL 2013, DOI: 10.1111/cge.12225

  2. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Version of Record online : 30 JUL 2013, DOI: 10.1111/cge.12230

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    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12191

  4. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 142–148, E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray and E.V. Semina

    Version of Record online : 17 SEP 2013, DOI: 10.1111/cge.12241

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    Genes and mutations causing retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 132–141, S P Daiger, L S Sullivan and S J Bowne

    Version of Record online : 19 JUN 2013, DOI: 10.1111/cge.12203

  6. Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 315–325, K Das and P Tan

    Version of Record online : 6 AUG 2013, DOI: 10.1111/cge.12229

  7. Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 482–486, S. Malik, S. Ullah, M. Afzal, K. Lal and S. Haque

    Version of Record online : 5 JUL 2013, DOI: 10.1111/cge.12217

  8. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 318–327, R. van Minkelen, Y. van Bever, J.N.R. Kromosoeto, C.J. Withagen-Hermans, A. Nieuwlaat, D.J.J. Halley and A.M.W. van den Ouweland

    Version of Record online : 25 JUN 2013, DOI: 10.1111/cge.12187

  9. Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 433–440, A.E. Bochem, J.C. van Capelleveen, G.M. Dallinga-Thie, A.W.M. Schimmel, M.M. Motazacker, I. Tietjen, R.R. Singaraja, M.R. Hayden, J.J.P. Kastelein, E.S.G. Stroes and G.K. Hovingh

    Version of Record online : 24 JUN 2013, DOI: 10.1111/cge.12201

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    Genetics of human cataract

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 120–127, A Shiels and J F Hejtmancik

    Version of Record online : 9 JUN 2013, DOI: 10.1111/cge.12182

  11. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 555–561, F.V. Ventura, P. Leandro, A. Luz, I.A. Rivera, M.F.B. Silva, R. Ramos, H. Rocha, A. Lopes, H. Fonseca, A. Gaspar, L. Diogo, E. Martins, E. Leão-Teles, L. Vilarinho and I. Tavares de Almeida

    Version of Record online : 28 JUL 2013, DOI: 10.1111/cge.12227

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    Alternative splicing and retinal degeneration

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 142–149, M M Liu and D J Zack

    Version of Record online : 5 JUN 2013, DOI: 10.1111/cge.12181

  13. Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 91–95, M.D. Ramos, D. Trujillano, R. Olivar, F. Sotillo, S. Ossowski, J. Manzanares, J. Costa, S. Gartner, C. Oliva, E. Quintana, M.I. Gonzalez, C. Vazquez, X. Estivill and T. Casals

    Version of Record online : 28 JUL 2013, DOI: 10.1111/cge.12234

  14. Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 464–469, F. Petit, A.-S. Jourdain, J. Andrieux, G. Baujat, C. Baumann, C. Beneteau, A. David, L. Faivre, D. Gaillard, B. Gilbert-Dussardier, P.-S. Jouk, C. Le Caignec, P. Loget, L. Pasquier, N. Porchet, M. Holder-Espinasse, S. Manouvrier-Hanu and F. Escande

    Version of Record online : 15 JUL 2013, DOI: 10.1111/cge.12219

  15. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 583–588, A.J. Brea-Fernández, J.M. Cameselle-Teijeiro, C. Alenda, C. Fernández-Rozadilla, J. Cubiella, J. Clofent, J.M. Reñé, U. Anido, M. Milá, F. Balaguer, A. Castells, S. Castellvi-Bel, R. Jover, A. Carracedo and C. Ruiz-Ponte

    Version of Record online : 28 JUL 2013, DOI: 10.1111/cge.12232

  16. Maternal genetic polymorphisms and unexplained recurrent miscarriage: a systematic review and meta-analysis

    Clinical Genetics

    X. Shi, X. Xie, Y. Jia and S. Li

    Version of Record online : 30 NOV 2016, DOI: 10.1111/cge.12910

  17. A family with two female siblings with compound heterozygous FMR1 premutation alleles

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 458–463, K. Basuta, R. Lozano, A. Schneider, C.M. Yrigollen, D. Hessl, R.J. Hagerman and F. Tassone

    Version of Record online : 28 JUL 2013, DOI: 10.1111/cge.12218

  18. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 255–260, J.-L. Lin, W.-I. Lee, J.-L. Huang, P. K.-T. Chen, K.-C. Chan, L.-J. Lo, Y.-J. You, Y.-F. Shih, T.-Y. Tseng and M.-C. Wu

    Version of Record online : 13 OCT 2014, DOI: 10.1111/cge.12484

  19. Could a patient with SMC1A duplication be classified as a human cohesinopathy?

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 446–451, C. Baquero-Montoya, M.C. Gil-Rodríguez, M.E. Teresa-Rodrigo, M. Hernández-Marcos, G. Bueno-Lozano, I. Bueno-Martínez, S. Remeseiro, R. Fernández-Hernández, M. Bassecourt-Serra, M. Rodríguez de Alba, E. Queralt, A. Losada, B. Puisac, F.J. Ramos and J. Pié

    Version of Record online : 17 JUN 2013, DOI: 10.1111/cge.12194

  20. Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

    Clinical Genetics

    Z. Fattahi, Z. Kalhor, M. Fadaee, R. Vazehan, E. Parsimehr, A. Abolhassani, M. Beheshtian, G. Zamani, S. Nafissi, Y. Nilipour, M.R. Akbari, K. Kahrizi, A. Kariminejad and H. Najmabadi

    Version of Record online : 21 JUL 2016, DOI: 10.1111/cge.12810