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2019 | 2 |
2023 | 4 |
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23.
Am J Hum Genet. 2019.
PMID: 31130284
Free PMC article.
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. Among authors: jaafar a.
Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3.
Nat Commun. 2023.
PMID: 37644014
Free PMC article.
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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: jaafar a.
Genome Med. 2023 Dec 14;15(1):114. doi: 10.1186/s13073-023-01270-8.
Genome Med. 2023.
PMID: 38098057
Free PMC article.
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Human 'knockouts' of CSF3 display severe congenital neutropenia.
Khouj E, Marafi D, Aljamal B, Hajiya A, Elshafie RM, Hashem MO, Abdulwahab F, Jaafar A, Alshidi T, Aboelanine AH, Awaji A, Alkuraya FS.
Khouj E, et al. Among authors: jaafar a.
Br J Haematol. 2023 Nov;203(3):477-480. doi: 10.1111/bjh.19054. Epub 2023 Aug 23.
Br J Haematol. 2023.
PMID: 37612131
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Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.
You M, Shamseldin HE, Fogle HM, Rushing BR, AlMalki RH, Jaafar A, Hashem M, Abdulwahab F, Abdel Rahman AM, Krupenko NI, Alkuraya FS, Krupenko SA.
You M, et al. Among authors: jaafar a.
Clin Genet. 2024 May;105(5):488-498. doi: 10.1111/cge.14479. Epub 2024 Jan 9.
Clin Genet. 2024.
PMID: 38193334
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Treatment of plane warts with long pulse ND - YAG laser 532 nm.
Al-Sabak H, Jaafar AA.
Al-Sabak H, et al. Among authors: jaafar aa.
Skin Res Technol. 2023 Sep;29(9):e13462. doi: 10.1111/srt.13462.
Skin Res Technol. 2023.
PMID: 37753672
Free PMC article.
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Khaled MA, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S,…
See abstract for full author list ➔
Monies D, et al. Among authors: jaafar a.
Am J Hum Genet. 2019 Oct 3;105(4):879. doi: 10.1016/j.ajhg.2019.09.019.
Am J Hum Genet. 2019.
PMID: 31585110
Free PMC article.
No abstract available.
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