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2021 | 1 |
2022 | 1 |
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Page 1
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med. 2023 Jan;25(1):90-102. doi: 10.1016/j.gim.2022.09.010. Epub 2022 Oct 31.
Genet Med. 2023.
PMID: 36318270
Free article.
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: elshafie rm.
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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LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.
Alfattal R, Alfarhan M, Algaith AM, Albash B, Elshafie RM, Alshammari A, Alahmad A, Dashti F, Alsafi R, Alsharhan H.
Alfattal R, et al. Among authors: elshafie rm.
Am J Med Genet A. 2023 May;191(5):1401-1411. doi: 10.1002/ajmg.a.63143. Epub 2023 Feb 9.
Am J Med Genet A. 2023.
PMID: 36757047
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Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
Alsharhan H, Ahmed AA, Ali NM, Alahmad A, Albash B, Elshafie RM, Alkanderi S, Elkazzaz UM, Cyril PX, Abdelrahman RM, Elmonairy AA, Ibrahim SM, Elfeky YME, Sadik DI, Al-Enezi SD, Salloum AM, Girish Y, Al-Ali M, Ramadan DG, Alsafi R, Al-Rushood M, Bastaki L.
Alsharhan H, et al. Among authors: elshafie rm.
Int J Neonatal Screen. 2021 Aug 17;7(3):56. doi: 10.3390/ijns7030056.
Int J Neonatal Screen. 2021.
PMID: 34449519
Free PMC article.
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A case report of a patient with recurrent and severe infections highlighting the importance of considering inborn errors of immunity.
Altammar F, Alshamali M, Alqunaee M, Alali AJ, Elshafie RM, Al-Herz W.
Altammar F, et al. Among authors: elshafie rm.
Front Pediatr. 2024 Feb 28;12:1340367. doi: 10.3389/fped.2024.1340367. eCollection 2024.
Front Pediatr. 2024.
PMID: 38487470
Free PMC article.
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