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213 results

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Page 1
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S, Kuwahara H, Ewida N, Shamseldin HE, Patel N, Alzahrani F, AlSheddi T, AlObeid E, Alenazi M, Alsaif HS, Alqahtani M, AlAli M, Al Ali H, Helaby R, Ibrahim N, Abdulwahab F, Hashem M, Hanna N, Monies D, Derar N, Alsagheir A, Alhashem A, Alsaleem B, Alhebbi H, Wali S, Umarov R, Gao X, Alkuraya FS. Maddirevula S, et al. Among authors: al ali h. Genome Biol. 2020 Jun 17;21(1):145. doi: 10.1186/s13059-020-02053-9. Genome Biol. 2020. PMID: 32552793 Free PMC article. Clinical Trial.
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
Alsaif HS, Al Ali H, Faqeih E, Ramadan SM, Barth M, Colin E, Prouteau C, Bonneau D, Ziegler A, Alkuraya FS. Alsaif HS, et al. Among authors: al ali h. Hum Genet. 2021 Sep;140(9):1395-1401. doi: 10.1007/s00439-021-02321-z. Epub 2021 Jul 27. Hum Genet. 2021. PMID: 34313816
A reference quality, fully annotated diploid genome from a Saudi individual.
Kulmanov M, Tawfiq R, Liu Y, Al Ali H, Abdelhakim M, Alarawi M, Aldakhil H, Alhattab D, Alsolme EA, Althagafi A, Angelov A, Bougouffa S, Driguez P, Park C, Putra A, Reyes-Ramos AM, Hauser CAE, Cheung MS, Abedalthagafi MS, Hoehndorf R. Kulmanov M, et al. Among authors: al ali h. Sci Data. 2024 Nov 23;11(1):1278. doi: 10.1038/s41597-024-04121-2. Sci Data. 2024. PMID: 39580486 Free PMC article.
Clinical presentation, outcome and management of snakebite cases in Saudi Arabia.
Alfaifi MS, Al-Yahya B, Alotaibi AE, Alaklabi HM, AlHelali I, Al-Benhassan I, Albshabshe AO, Al-Ali HE, Alzahrani HM, Awaji NM, Alshehri S, Darbi AY, Alqahtani MS, Moran TP, Morgan BW. Alfaifi MS, et al. Among authors: al ali he. East Mediterr Health J. 2024 Sep 1;30(8):551-560. doi: 10.26719/2024.30.8.551. East Mediterr Health J. 2024. PMID: 39559972 Free article.
The cyclin-G associated kinase (GAK) is a novel mitotic kinase and therapeutic target in diffuse large B-cell lymphoma.
Lightfuss OB, Kumar P, Li L, Shastri T, Newsam AD, Manara P, Alaoui AY, Parets DEH, Younes PA, Chahar D, Arumov A, Coughlin CA, Williams IP, Fattakhov N, Martinez AB, Landgren O, Schurer SC, Lemmon V, Maura F, Bilbao D, Feng Y, Al-Ali H, Schatz JH. Lightfuss OB, et al. Among authors: al ali h. bioRxiv [Preprint]. 2024 Oct 26:2024.10.21.619489. doi: 10.1101/2024.10.21.619489. bioRxiv. 2024. PMID: 39484514 Free PMC article. Preprint.
NCCN guideline-concordant cancer care in Sub-Saharan Africa A population-based multi-country study of five cancers.
Mezger NCS, Seraphin TP, Ballé R, Griesel M, Joko-Fru YW, Hämmerl L, Feuchtner J, Liu B, Zietsman A, Kamaté B, Gnangnon FHR, Gnahatin F, Mboungou DM, Assefa M, Amulen PM, Chesumbai G, Chingonzoh T, Lorenzoni CF, Korir A, Carvalho Santos PS, Mezger JM, Al-Ali HK, Mikolajczyk R, Parkin DM, Jemal A, Kantelhardt EJ. Mezger NCS, et al. Among authors: al ali hk. J Natl Cancer Inst. 2024 Sep 12:djae221. doi: 10.1093/jnci/djae221. Online ahead of print. J Natl Cancer Inst. 2024. PMID: 39269229
Efficacy and safety of fedratinib in patients with myelofibrosis previously treated with ruxolitinib (FREEDOM2): results from a multicentre, open-label, randomised, controlled, phase 3 trial.
Harrison CN, Mesa R, Talpaz M, Al-Ali HK, Xicoy B, Passamonti F, Palandri F, Benevolo G, Vannucchi AM, Mediavilla C, Iurlo A, Kim I, Rose S, Brown P, Hernandez C, Wang J, Kiladjian JJ. Harrison CN, et al. Among authors: al ali hk. Lancet Haematol. 2024 Oct;11(10):e729-e740. doi: 10.1016/S2352-3026(24)00212-6. Epub 2024 Sep 9. Lancet Haematol. 2024. PMID: 39265613 Clinical Trial.
213 results