Stephen Dlouhy

  • 4561 Citations
  • 35 h-Index
1979 …2018
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Pelizaeus-Merzbacher Disease Medicine & Life Sciences
Proteolipids Medicine & Life Sciences
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Androgen-Binding Protein Medicine & Life Sciences
Exons Medicine & Life Sciences
Genes Medicine & Life Sciences
Proteins Medicine & Life Sciences

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Publications 1979 2018

  • 4561 Citations
  • 35 h-Index
  • 95 Article
  • 2 Chapter

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

Megalencephaly
Polyhydramnios
Siblings
Epilepsy
Phosphotransferases

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

Feldman, H. R., Dlouhy, S., Lah, M. D., Payne, K. K. & Weaver, D., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Hypertrichosis
Genes
Developmental Disabilities
Intellectual Disability
Kidney

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

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

Research output: Contribution to journalArticle

Sinus Pericranii
Achondroplasia
Vascular Malformations
Intracranial Pressure
Craniocerebral Trauma

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

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Alleles
Multiplex Polymerase Chain Reaction
Mucus
2 Citations (Scopus)

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

Myotonic Dystrophy
Molecular Pathology
3' Untranslated Regions
Muscular Diseases
Microsatellite Repeats