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

727 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Shamseldin HE, Tulbah M, Kurdi W, Nemer M, Alsahan N, Al Mardawi E, Khalifa O, Hashem A, Kurdi A, Babay Z, Bubshait DK, Ibrahim N, Abdulwahab F, Rahbeeni Z, Hashem M, Alkuraya FS. Shamseldin HE, et al. Among authors: hashem a, hashem m. Genome Biol. 2015 Jun 3;16(1):116. doi: 10.1186/s13059-015-0681-6. Genome Biol. 2015. PMID: 26036949 Free PMC article.
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Shamseldin H, Alazami AM, Manning M, Hashem A, Caluseiu O, Tabarki B, Esplin E, Schelley S, Innes AM, Parboosingh JS, Lamont R; Care4Rare Canada Consortium; Majewski J, Bernier FP, Alkuraya FS. Shamseldin H, et al. Among authors: hashem a. Am J Hum Genet. 2015 Dec 3;97(6):862-8. doi: 10.1016/j.ajhg.2015.10.012. Epub 2015 Nov 19. Am J Hum Genet. 2015. PMID: 26608784 Free PMC article.
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Anazi S, et al. Among authors: hashem a, hashem m. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19. Mol Psychiatry. 2017. PMID: 27431290
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A; UK10K Consortium; Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS. Shaheen R, et al. Among authors: hashem a. Hum Mol Genet. 2015 Mar 1;24(5):1410-9. doi: 10.1093/hmg/ddu555. Epub 2014 Oct 30. Hum Mol Genet. 2015. PMID: 25361962 Free PMC article.
ADAT3-related intellectual disability: Further delineation of the phenotype.
El-Hattab AW, Saleh MA, Hashem A, Al-Owain M, Asmari AA, Rabei H, Abdelraouf H, Hashem M, Alazami AM, Patel N, Shaheen R, Faqeih EA, Alkuraya FS. El-Hattab AW, et al. Among authors: hashem a, hashem m. Am J Med Genet A. 2016 May;170A(5):1142-7. doi: 10.1002/ajmg.a.37578. Epub 2016 Feb 3. Am J Med Genet A. 2016. PMID: 26842963
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH. Gupta VA, et al. Among authors: hashem a. Am J Hum Genet. 2013 Dec 5;93(6):1108-17. doi: 10.1016/j.ajhg.2013.10.020. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268659 Free PMC article.
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F. Ramzan K, et al. Among authors: hashem a. Am J Med Genet B Neuropsychiatr Genet. 2020 Apr;183(3):172-180. doi: 10.1002/ajmg.b.32774. Epub 2019 Dec 19. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 31854501
727 results