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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1995 1
1997 1
1999 1
2003 1
2006 1
2008 1
2009 1
2011 1
2012 3
2013 2
2017 1
2018 1
2019 1
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

18 results

Results by year

Filters applied: . Clear all
Page 1
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS. AlAbdi L, et al. Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3. Nat Commun. 2023. PMID: 37644014 Free PMC article.
Novel mutation in GLRB in a large family with hereditary hyperekplexia.
Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, Aldhalaan H, Rahbeeni Z, Al-Sayed M, Al-Younes B, Ozand PT, Kaya N. Al-Owain M, et al. Clin Genet. 2012 May;81(5):479-84. doi: 10.1111/j.1399-0004.2011.01661.x. Epub 2011 Apr 7. Clin Genet. 2012. PMID: 21391991
Efficacy of topical cysteamine in nephropathic cystinosis.
Al-Hemidan A, Shoughy SS, Kozak I, Tabbara KF. Al-Hemidan A, et al. Br J Ophthalmol. 2017 Sep;101(9):1234-1237. doi: 10.1136/bjophthalmol-2016-309278. Epub 2017 Jan 5. Br J Ophthalmol. 2017. PMID: 28057644
Sarcoidosis: a delayed or missed diagnosis in children.
Al-Mayouf SM, Al-Sonbul A, Al Jumaah S, Al-Hemidan A. Al-Mayouf SM, et al. Ann Saudi Med. 2006 May-Jun;26(3):220-3. doi: 10.5144/0256-4947.2006.220. Ann Saudi Med. 2006. PMID: 16861861 Free PMC article. No abstract available.
Mutation in MPDZ causes severe congenital hydrocephalus.
Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS. Al-Dosari MS, et al. J Med Genet. 2013 Jan;50(1):54-8. doi: 10.1136/jmedgenet-2012-101294. J Med Genet. 2013. PMID: 23240096
A case of de Barsy syndrome with a severe eye phenotype.
Al-Owain M, Alanazi S, Khalifa O, Al-Hemidan A, Al-Ebdi L, Al-Saud B, Alkuraya FS. Al-Owain M, et al. Am J Med Genet A. 2012 Sep;158A(9):2364-6. doi: 10.1002/ajmg.a.35507. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887749 No abstract available.
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, Alzaidan HI, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan AO, Aldahmesh MA, Alkuraya FS. Patel N, et al. Among authors: alhemidan a. Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3. Clin Genet. 2018. PMID: 30054919
18 results