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Year | Number of Results |
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2016 | 2 |
2017 | 2 |
2019 | 1 |
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2024 | 0 |
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Page 1
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.
J Clin Immunol. 2017 Aug;37(6):575-581. doi: 10.1007/s10875-017-0423-5. Epub 2017 Jul 24.
J Clin Immunol. 2017.
PMID: 28741180
Review.
Hematopoietic stem cell transplantation corrects WIP deficiency.
Al-Mousa H, Hawwari A, Al-Ghonaium A, Al-Saud B, Al-Dhekri H, Al-Muhsen S, Elshorbagi S, Dasouki M, El-Baik L, Alseraihy A, Ayas M, Arnaout R.
Al-Mousa H, et al.
J Allergy Clin Immunol. 2017 Mar;139(3):1039-1040.e4. doi: 10.1016/j.jaci.2016.08.036. Epub 2016 Oct 11.
J Allergy Clin Immunol. 2017.
PMID: 27742395
No abstract available.
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Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS.
Khalifa OA, et al. Among authors: elbaik l.
Am J Med Genet A. 2020 Nov;182(11):2486-2500. doi: 10.1002/ajmg.a.61806. Epub 2020 Aug 19.
Am J Med Genet A. 2020.
PMID: 32812330
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Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.
Ahmari AA, Alsmadi O, Sheereen A, Elamin T, Jabr A, El-Baik L, Alhissi S, Saud BA, Al-Awwami M, Fawaz IA, Ayas M, Siddiqui K, Hawwari A.
Ahmari AA, et al.
Blood Res. 2021 Jun 30;56(2):86-101. doi: 10.5045/br.2021.2020308.
Blood Res. 2021.
PMID: 34083498
Free PMC article.
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Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
Al-Mousa H, Abouelhoda M, Monies DM, Al-Tassan N, Al-Ghonaium A, Al-Saud B, Al-Dhekri H, Arnaout R, Al-Muhsen S, Ades N, Elshorbagi S, Al Gazlan S, Sheikh F, Dasouki M, El-Baik L, Elamin T, Jaber A, Kheir O, El-Kalioby M, Subhani S, Al Idrissi E, Al-Zahrani M, Alhelale M, Alnader N, Al-Otaibi A, Kattan R, Al Abdelrahman K, Al Breacan MM, Bin Humaid FS, Wakil SM, Alzayer F, Al-Dusery H, Faquih T, Al-Hissi S, Meyer BF, Hawwari A.
Al-Mousa H, et al.
J Allergy Clin Immunol. 2016 Jun;137(6):1780-1787. doi: 10.1016/j.jaci.2015.12.1310. Epub 2016 Feb 23.
J Allergy Clin Immunol. 2016.
PMID: 26915675
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Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
Ramzan K, Al-Numair NS, Al-Ageel S, Elbaik L, Sakati N, Al-Hazzaa SAF, Al-Owain M, Imtiaz F.
Ramzan K, et al. Among authors: elbaik l.
Genes (Basel). 2020 Dec 9;11(12):1474. doi: 10.3390/genes11121474.
Genes (Basel). 2020.
PMID: 33316915
Free PMC article.
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First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations.
Al-Numair NS, Ramzan K, Saleh M, Alzahrani H, Tarawah A, Abu-Douleh E, Elbaik L, Imtiaz F, Owaidah TM.
Al-Numair NS, et al. Among authors: elbaik l.
Blood Coagul Fibrinolysis. 2019 Jul;30(5):224-232. doi: 10.1097/MBC.0000000000000828.
Blood Coagul Fibrinolysis. 2019.
PMID: 31268865
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