Clinical Genetics

Cover image for Vol. 89 Issue 5

Edited By: Reiner A. Veitia

Impact Factor: 3.931

ISI Journal Citation Reports © Ranking: 2014: 42/167 (Genetics & Heredity)

Online ISSN: 1399-0004

Just Published Articles

  1. Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II

    Anusha Uttarilli, Prajnya Ranganath, Divya Matta, Jamal Md Nurul Jain, Krishna Prasad C, Sobhan Babu A, Katta M Girisha, Ishwar C Verma, Shubha R Phadke, Kausik Mandal, Ratna D Puri, Shagun Aggarwal, Sumita Danda, Sankar V H, Seema Kapoor, Meenakshi Bhat, Kalpana Gowrishankar, Annie Q Hasan, Mohandas Nair, Sheela Nampoothiri and Ashwin Dalal

    Accepted manuscript online: 5 MAY 2016 03:05AM EST | DOI: 10.1111/cge.12795

  2. National G6PD neonatal screening program in Gaza Strip of Palestine: rationale, challenges and recommendations

    M.M. Sirdah, M.S. Al-Kahlout and N.S. Reading

    Article first published online: 4 MAY 2016 | DOI: 10.1111/cge.12786

  3. Down syndrome in adults: a 27-year follow-up of adaptive skills

    M. Arvio and L. Luostarinen

    Article first published online: 2 MAY 2016 | DOI: 10.1111/cge.12787

  4. Expanding the phenotype of CRB2 mutations – A new ciliopathy syndrome?

    R. Jaron, N. Rosenfeld, F. Zahdeh, S. Carmi, L. Beni-Adani, V. Doviner, E. Picard, R. Segel, S. Zeligson, L. Carmel, P. Renbaum and E. Levy-Lahad

    Article first published online: 2 MAY 2016 | DOI: 10.1111/cge.12764

  5. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia

    J. Thevenon, L. Duplomb, S. Phadke, T. Eguether, A. Saunier, M. Avila, V. Carmignac, A.-L. Bruel, J. St-Onge, Y. Duffourd, G.J. Pazour, B. Franco, T. Attie-Bitach, A. Masurel-Paulet, J.-B. Rivière, V. Cormier-Daire, C. Philippe, L. Faivre and C. Thauvin-Robinet

    Article first published online: 29 APR 2016 | DOI: 10.1111/cge.12785

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Reiner A. Veitia

Reiner A. Veitia, PhD, is a Professor of Genetics at Paris Diderot University, Paris, France.
Veitia's research focus is primarily on the genetics of premature ovarian insufficiency, nonepithelial ovarian malignancies and the molecular basis of genetic dominance.

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