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

Results by year

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

Year Number of Results
2003 2
2004 7
2005 7
2006 18
2007 29
2008 16
2009 24
2010 10
2011 18
2012 25
2013 32
2014 27
2015 31
2016 29
2017 24
2018 11
2019 13
2020 14
2021 7
2022 10
2023 13
2024 10
2025 13

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

336 results

Results by year

Filters applied: . Clear all
Page 1
The genomic landscape of rare disorders in the Middle East.
El Naofal M, Ramaswamy S, Alsarhan A, Nugud A, Sarfraz F, Janbaz H, Taylor A, Jain R, Halabi N, Yaslam S, Alfalasi R, Shenbagam S, Rabea F, Bitzan M, Yavuz L, Wafadari D, Abulhoul H, Shankar S, Al Maazmi M, Rizk R, Alloub Z, Elbashir H, Babiker MOE, Chencheri N, AlBanna A, Sultan M, El Bitar M, Kherani S, Thalange N, Alshryda S, Di Donato R, Tzivinikos C, Majid I, Freeman AF, Gonzalez C, Khan AO, Hamdan H, Abuhammour W, AlAwadhi M, AlKhayat A, Alsheikh-Ali A, Abou Tayoun AN. El Naofal M, et al. Among authors: khan ao. Genome Med. 2023 Jan 27;15(1):5. doi: 10.1186/s13073-023-01157-8. Genome Med. 2023. PMID: 36703223 Free PMC article.
Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS. Maddirevula S, et al. Among authors: khan ao. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5. Genet Med. 2018. PMID: 29620724 Free article.
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS. Patel N, et al. Among authors: khan ao. Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10. Genet Med. 2016. PMID: 26355662 Free article.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ. Eisenberger T, et al. Among authors: khan ao. PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013. PLoS One. 2013. PMID: 24265693 Free PMC article.
Pediatric strabismus.
Khan AO. Khan AO. N Engl J Med. 2007 Jun 28;356(26):2750; author reply 2750-1. doi: 10.1056/NEJMc070934. N Engl J Med. 2007. PMID: 17596615 No abstract available.
Inherited retinal diseases and gene therapy update.
Khan AO. Khan AO. Saudi J Ophthalmol. 2023 Dec 21;37(4):261-262. doi: 10.4103/sjopt.sjopt_295_23. eCollection 2023 Oct-Dec. Saudi J Ophthalmol. 2023. PMID: 38155682 Free PMC article. No abstract available.
Correspondence.
Khan AO. Khan AO. Retina. 2016 Jul;36(7):e68. doi: 10.1097/IAE.0000000000001108. Retina. 2016. PMID: 27276642 No abstract available.
Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy.
Aypek H, Krisp C, Lu S, Liu S, Kylies D, Kretz O, Wu G, Moritz M, Amann K, Benz K, Tong P, Hu ZM, Alsulaiman SM, Khan AO, Grohmann M, Wagner T, Müller-Deile J, Schlüter H, Puelles VG, Bergmann C, Huber TB, Grahammer F. Aypek H, et al. Among authors: khan ao. J Clin Invest. 2022 May 2;132(9):e147253. doi: 10.1172/JCI147253. J Clin Invest. 2022. PMID: 35499085 Free PMC article.
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
AlAbdi L, Shamseldin HE, Khouj E, Helaby R, Aljamal B, Alqahtani M, Almulhim A, Hamid H, Hashem MO, Abdulwahab F, Abouyousef O, Jaafar A, Alshidi T, Al-Owain M, Alhashem A, Al Tala S, Khan AO, Mardawi E, Alkuraya H, Faqeih E, Afqi M, Alkhalifi S, Rahbeeni Z, Hagos ST, Al-Ahmadi W, Nadeef S, Maddirevula S, Khabar KSA, Putra A, Angelov A, Park C, Reyes-Ramos AM, Umer H, Ullah I, Driguez P, Fukasawa Y, Cheung MS, Gallouzi IE, Alkuraya FS. AlAbdi L, et al. Among authors: khan ao. Genome Med. 2023 Dec 14;15(1):114. doi: 10.1186/s13073-023-01270-8. Genome Med. 2023. PMID: 38098057 Free PMC article.
336 results