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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, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun G, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Bahrami Monajemi G, Mohammadi P, Samie S, Banu SH, Basto JP, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Hameed Issa A, 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. 2023 Nov 10:awad380. doi: 10.1093/brain/awad380. Online ahead of print. Brain. 2023. PMID: 37951597
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.
SARS-CoV-2 Infection Is at Herd Immunity in the Majority Segment of the Population of Qatar.
Al-Thani MH, Farag E, Bertollini R, Al Romaihi HE, Abdeen S, Abdelkarim A, Daraan F, Elhaj Ismail AIH, Mostafa N, Sahl M, Suliman J, Tayar E, Kasem HA, Agsalog MJA, Akkarathodiyil BK, Alkhalaf AA, Alakshar MMMH, Al-Qahtani AAAH, Al-Shedifat MHA, Ansari A, Ataalla AA, Chougule S, Gopinathan AKKV, Poolakundan FJ, Ranbhise SU, Saefan SMA, Thaivalappil MM, Thoyalil AS, Umar IM, Al Kanaani Z, Al Khal A, Al Kuwari E, Butt AA, Coyle P, Jeremijenko A, Kaleeckal AH, Latif AN, Shaik RM, Abdul Rahim HF, Yassine HM, Nasrallah GK, Al Kuwari MG, Chaghoury O, Chemaitelly H, Abu-Raddad LJ; Craft and Manual Workers Seroprevalence Study Group. Al-Thani MH, et al. Open Forum Infect Dis. 2021 May 2;8(8):ofab221. doi: 10.1093/ofid/ofab221. eCollection 2021 Aug. Open Forum Infect Dis. 2021. PMID: 34458388 Free PMC article.
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.
18 results