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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC. Muir AM, et al. Among authors: alhakeem a. Genet Med. 2021 May;23(5):881-887. doi: 10.1038/s41436-020-01076-8. Epub 2021 Jan 20. Genet Med. 2021. PMID: 33473207 Free PMC article.
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Feichtinger RG, et al. Among authors: alhakeem a. Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16. Genet Med. 2019. PMID: 31092906 Free article.
Antiepileptic drugs.
Alhakeem A, Tabarki B. Alhakeem A, et al. Neurosciences (Riyadh). 2014 Jul;19(3):242-3. Neurosciences (Riyadh). 2014. PMID: 25252364 No abstract available.
Hereditary Hyperekplexia in Saudi Arabia.
Aldhilan A, Alhakeem A, Al Hajjaj S, Abukhalid M, Aldhalaan H, Salah E, Saeed M, Tabassum S, El Khashab HY, Aljabri M, Ali ES, Alwadei A, Hundallah K, Alghamdi A, Hakami W, AlShafi S, Alkuraya FS, Alanazy N, Seidahmed MZ, Alfadhel M, Tabarki B. Aldhilan A, et al. Among authors: alhakeem a. Pediatr Neurol. 2022 Sep;134:78-82. doi: 10.1016/j.pediatrneurol.2022.06.015. Epub 2022 Jun 24. Pediatr Neurol. 2022. PMID: 35841715
Pantothenate kinase-associated neurodegeneration.
Hundallah K, Al Hakeem A. Hundallah K, et al. Neurosciences (Riyadh). 2017 Apr;22(2):156-157. doi: 10.17712/nsj.2017.2.20170197. Neurosciences (Riyadh). 2017. PMID: 28416789 Free PMC article. No abstract available.
Prognosis of Spontaneous Pneumothorax/Pneumomediastinum in Coronavirus Disease 2019: The CoBiF Score.
Woo W, Kipkorir V, Marza AM, Hamouri S, Albawaih O, Dhali A, Kim W, Udwadia ZF, Nashwan AJ, Shaikh N, Belletti A, Landoni G, Palumbo D, Swed S, Sawaf B, Buonsenso D, Pimenta I, Gonzalez FA, Fiorentino G, Rashid Ali MRS, Quincho-Lopez A, Javanbakht M, Alhakeem A, Khan MM, Shah S, Rafiee MJ, Padala SRAN, Diebel S, Song SH, Kang DY, Moon DH, Lee HS, Yang J, Flower L, Yon DK, Lee SW, Shin JI, Lee S, International Covid-Pneumothorax Working Group Icp-Wg. Woo W, et al. Among authors: alhakeem a. J Clin Med. 2022 Nov 30;11(23):7132. doi: 10.3390/jcm11237132. J Clin Med. 2022. PMID: 36498706 Free PMC article.
16 results