Stephen Dlouhy

  • 4594 Citations
  • 35 h-Index
1979 …2019

Research output per year

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Publications

The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene

Feldman, H. R., Dlouhy, S. R., Lah, M. D., Payne, K. K. & Weaver, D. D., Feb 1 2019, In : American Journal of Medical Genetics, Part A. 179, 2, p. 300-305 6 p.

Research output: Contribution to journalArticle

  • 1 Scopus citations

    Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment

    Nelson, K., Jackman, C., Bell, J., Shih, C-S., Payne, K., Dlouhy, S. & Walsh, L., Dec 1 2018, In : Journal of Child Neurology. 33, 14, p. 925-929 5 p.

    Research output: Contribution to journalArticle

  • Sinus pericranii in achondroplasia: A case report and review of the literature

    Scott, A. A., Hodge, K. D., Torres-Martinez, W., Dlouhy, S. R., Smith, J. L. & Weaver, D. D., Jan 1 2017, In : Clinical Dysmorphology. 26, 4, p. 252-255 4 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis

    Celestino-Soper, P. B. S., Simpson, E., Tumbleson Brink, D., Lynnes, T. C., Dlouhy, S., Vatta, M., Yeley, J., Brown, C. & Bai, S., Dec 20 2016, In : Scientific reports. 6, 38776.

    Research output: Contribution to journalArticle

  • Molecular diagnosis of myotonic dystrophy

    Chakraborty, S., Vatta, M., Bachinski, L. L., Krahe, R., Dlouhy, S. & Bai, S., 2016, In : Current Protocols in Human Genetics. 2016, p. 9.29.1-9.29.19

    Research output: Contribution to journalArticle

  • 2 Scopus citations