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There are 14278 results for: content related to: Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

  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

  3. 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

  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

  5. You have free access to this content
    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

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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

  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. Emergence patterns and ecological associations of some haematophagous blackfly species along an oligotrophic hydrosystem

    Medical and Veterinary Entomology

    Volume 28, Issue 1, March 2014, Pages: 94–102, M. IVKOVIĆ, M. KESIĆ, Z. MIHALJEVIĆ and M. KÚDELA

    Version of Record online : 3 JUL 2013, DOI: 10.1111/mve.12019

  14. 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

  15. Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 476–481, E. Schaefer, J. Lauer, M. Durand, V. Pelletier, C. Obringer, A. Claussmann, J.-J. Braun, C. Redin, C. Mathis, J. Muller, C. Schmidt-Mutter, E. Flori, V. Marion, C. Stoetzel and H. Dollfus

    Version of Record online : 12 JUN 2013, DOI: 10.1111/cge.12198

  16. 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

  17. Pregnancy in an individual with mild Smith–Lemli–Opitz syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 495–497, M.S. Ellingson, M.J. Wick, W.M. White, K.M. Raymond, A.K. Saenger, P.N. Pichurin, C.A. Wassif, F.D. Porter and D. Babovic-Vuksanovic

    Version of Record online : 24 JUN 2013, DOI: 10.1111/cge.12209

  18. You have full text access to this OnlineOpen article
    Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 423–432, E.I. Ramos, G.A. Bien-Willner, J. Li, A.E.O. Hughes, J. Giacalone, S. Chasnoff, S. Kulkarni, M. Parmacek, F.S. Cole and T.E. Druley

    Version of Record online : 18 JUN 2013, DOI: 10.1111/cge.12197

  19. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Version of Record online : 9 JUL 2013, DOI: 10.1111/cge.12196

  20. 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