Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

29 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mobile element insertion detection in 89,874 clinical exomes.
Torene RI, Galens K, Liu S, Arvai K, Borroto C, Scuffins J, Zhang Z, Friedman B, Sroka H, Heeley J, Beaver E, Clarke L, Neil S, Walia J, Hull D, Juusola J, Retterer K. Torene RI, et al. Among authors: sroka h. Genet Med. 2020 May;22(5):974-978. doi: 10.1038/s41436-020-0749-x. Epub 2020 Jan 22. Genet Med. 2020. PMID: 31965078 Free PMC article.
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.
Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P. Chitayat D, et al. Among authors: sroka h. Am J Med Genet A. 2007 Jun 15;143A(12):1268-81. doi: 10.1002/ajmg.a.31788. Am J Med Genet A. 2007. PMID: 17506106
Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia.
Pipo-Deveza J, Fehlings D, Chitayat D, Yoon G, Sroka H, Tein I. Pipo-Deveza J, et al. Among authors: sroka h. Mov Disord. 2018 Apr;33(4):656-657. doi: 10.1002/mds.27320. Epub 2018 Feb 13. Mov Disord. 2018. PMID: 29436745 No abstract available.
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.
Dempsey MA, Knight Johnson AE, Swope BS, Moldenhauer JS, Sroka H, Chong K, Chitayat D, Briere L, Lyon H, Palmer N, Gopalani S, Siebert JR, Lévesque S, Leblanc J, Menzies D, Haverfield E, Das S. Dempsey MA, et al. Among authors: sroka h. Prenat Diagn. 2014 Feb;34(2):163-7. doi: 10.1002/pd.4279. Epub 2013 Dec 9. Prenat Diagn. 2014. PMID: 24218399
Monosomy 3 and isochromosome 8q in a uveal melanoma.
Horsman DE, Sroka H, Rootman J, White VA. Horsman DE, et al. Among authors: sroka h. Cancer Genet Cytogenet. 1990 Apr;45(2):249-53. doi: 10.1016/0165-4608(90)90090-w. Cancer Genet Cytogenet. 1990. PMID: 2317773
29 results