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

782 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.
Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M. Almuriekhi M, et al. Among authors: kamel h. Cell Rep. 2015 Mar 10;10(9):1585-1598. doi: 10.1016/j.celrep.2015.02.011. Epub 2015 Mar 5. Cell Rep. 2015. PMID: 25753423 Free article.
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V. Ben-Omran T, et al. Among authors: kamel h. J Med Genet. 2015 Jun;52(6):381-90. doi: 10.1136/jmedgenet-2014-102707. Epub 2015 Apr 14. J Med Genet. 2015. PMID: 25873735
Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.
Ben-Omran T, Alsulaiman R, Kamel H, Shaheen R, Alkuraya FS. Ben-Omran T, et al. Among authors: kamel h. Am J Med Genet A. 2015 Oct;167A(10):2478-80. doi: 10.1002/ajmg.a.37175. Epub 2015 May 22. Am J Med Genet A. 2015. PMID: 25997910 No abstract available.
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.
Elsaid MF, Chalhoub N, Ben-Omran T, Kumar P, Kamel H, Ibrahim K, Mohamoud Y, Al-Dous E, Al-Azwani I, Malek JA, Suhre K, Ross ME, Aleem AA. Elsaid MF, et al. Among authors: kamel h. Ann Neurol. 2017 Jan;81(1):68-78. doi: 10.1002/ana.24826. Ann Neurol. 2017. PMID: 27863452
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
Elsaid MF, Kamel H, Chalhoub N, Aziz NA, Ibrahim K, Ben-Omran T, George B, Al-Dous E, Mohamoud Y, Malek JA, Ross ME, Aleem AA. Elsaid MF, et al. Among authors: kamel h. Am J Med Genet A. 2014 Jun;164A(6):1614-7. doi: 10.1002/ajmg.a.36485. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668585 No abstract available.
Joubert syndrome labeled as hypotonic cerebral palsy.
Dekair LH, Kamel H, El-Bashir HO. Dekair LH, et al. Among authors: kamel h. Neurosciences (Riyadh). 2014 Jul;19(3):233-5. Neurosciences (Riyadh). 2014. PMID: 24983287 Free PMC article.
782 results