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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

57 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Caparrós-Martín JA, De Luca A, Cartault F, Aglan M, Temtamy S, Otaify GA, Mehrez M, Valencia M, Vázquez L, Alessandri JL, Nevado J, Rueda-Arenas I, Heath KE, Digilio MC, Dallapiccola B, Goodship JA, Mill P, Lapunzina P, Ruiz-Perez VL. Caparrós-Martín JA, et al. Among authors: mehrez m. Hum Mol Genet. 2015 Jul 15;24(14):4126-37. doi: 10.1093/hmg/ddv152. Epub 2015 Apr 23. Hum Mol Genet. 2015. PMID: 25908617 Free PMC article.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL. Palencia-Campos A, et al. Among authors: mehrez mi. Am J Hum Genet. 2020 Nov 5;107(5):977-988. doi: 10.1016/j.ajhg.2020.09.005. Epub 2020 Oct 14. Am J Hum Genet. 2020. PMID: 33058759 Free PMC article.
ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.
Ismail S, Essawi M, Sedky N, Hassan H, Fayez A, Helmy N, Shehab M, Farouk D, Elruby M, Otaify G, Eldarsh A, Hosny L, Gaber K, Aboul-Ezz EHA, Ramzy MI, Mehrez MI, Hassib NF, Elhadidi SMA, Aglan MS, Temtamy SA. Ismail S, et al. Among authors: mehrez mi. Genet Couns. 2016;27(3):305-323. Genet Couns. 2016. PMID: 30204960
Lenz-Majewski syndrome in a patient from Egypt.
Afifi HH, Abdel-Hamid MS, Mehrez MI, El-Kamah G, Abdel-Salam GMH. Afifi HH, et al. Among authors: mehrez mi. Am J Med Genet A. 2019 Oct;179(10):2039-2042. doi: 10.1002/ajmg.a.61327. Epub 2019 Aug 12. Am J Med Genet A. 2019. PMID: 31403251
57 results