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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA. Shao DD, et al. Among authors: ahmed h. Genet Med. 2021 Jun;23(6):1158-1162. doi: 10.1038/s41436-021-01097-x. Epub 2021 Feb 2. Genet Med. 2021. PMID: 33531666 Free PMC article.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: ahmed h. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
Nashabat M, Obaid A, Al Mutairi F, Saleh M, Elamin M, Ahmed H, Ababneh F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Aljeraisy M, Hussein MA, Alasmari A, Alfadhel M. Nashabat M, et al. Among authors: ahmed h. BMC Pediatr. 2019 Jun 13;19(1):195. doi: 10.1186/s12887-019-1571-y. BMC Pediatr. 2019. PMID: 31196016 Free PMC article.
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Alfadhel M, Nashabat M, Saleh M, Elamin M, Alfares A, Al Othaim A, Umair M, Ahmed H, Ababneh F, Al Mutairi F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Almannai M, Aljeraisy M, Albdah B, Hussein MA, Rahbeeni Z, Alasmari A. Alfadhel M, et al. Among authors: ahmed h. Orphanet J Rare Dis. 2021 Oct 11;16(1):422. doi: 10.1186/s13023-021-02032-8. Orphanet J Rare Dis. 2021. PMID: 34635114 Free PMC article. Clinical Trial.
Cervical Health Parameters in Car Drivers: Assessing the Influence of Driving on Neck Pain, Mobility, Proprioception and Craniovertebral Angle - A Cross-Sectional Study.
Alshahrani A, Ghulam HSH, Alqhtani RS, Al Sharyah YHH, Ahmed H, Aafreen A, Khan AR, Khan A, Ahmad A. Alshahrani A, et al. Among authors: ahmed h. J Multidiscip Healthc. 2024 May 2;17:2013-2020. doi: 10.2147/JMDH.S458364. eCollection 2024. J Multidiscip Healthc. 2024. PMID: 38716370 Free PMC article.
Quantifying Posttraumatic Stress Disorder Symptoms During Traumatic Memories Using Interpretable Markers of Respiratory Variability.
Gazi AH, Sanchez-Perez JA, Saks GL, Alday EAP, Haffar A, Ahmed H, Herraka D, Tarlapally N, Smith NL, Bremner JD, Shah AJ, Inan OT, Vaccarino V. Gazi AH, et al. Among authors: ahmed h. IEEE J Biomed Health Inform. 2024 May 7;PP. doi: 10.1109/JBHI.2024.3397589. Online ahead of print. IEEE J Biomed Health Inform. 2024. PMID: 38713564
Insight into hematological parameters of petrol station workers.
Binsaleh NK, Eltayeb R, Bashir EM, Idris HME, Althobiti MM, Ahmed HG, Khan MWA, Qanash H. Binsaleh NK, et al. Among authors: ahmed hg. Eur Rev Med Pharmacol Sci. 2024 Apr;28(8):3135-3143. doi: 10.26355/eurrev_202404_36029. Eur Rev Med Pharmacol Sci. 2024. PMID: 38708472
Patterns, timing and predictors of recurrence following pancreaticoduodenectomy for distal cholangiocarcinoma: An international multicentre retrospective cohort study.
Labib PL, Russell TB, Denson JL, Puckett MA, Ausania F, Pando E, Roberts KJ, Kausar A, Mavroeidis VK, Bhogal RH, Marangoni G, Thomasset SC, Frampton AE, Spalding DR, Lykoudis P, Bellotti R, Alhaboob N, Srinivasan P, Bari H, Smith A, Dominguez-Rosado I, Croagh D, Thakkar RG, Gomez D, Silva MA, Lapolla P, Mingoli A, Davidson BR, Porcu A, Shah NS, Hamady ZZ, Al-Sarireh BA, Serrablo A; RAW study collaborators; Aroori S. Labib PL, et al. Eur J Surg Oncol. 2024 Apr 22;50(6):108353. doi: 10.1016/j.ejso.2024.108353. Online ahead of print. Eur J Surg Oncol. 2024. PMID: 38701690
3,346 results