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2009 2
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40 results

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Page 1
Genetics of ataxia telangiectasia in a highly consanguineous population.
Al-Muhaizea MA, Aldeeb H, Almass R, Jaber H, Binhumaid F, Alquait L, Abukhalid M, Aldhalaan H, Alsagob M, Al-Bakheet A, Aldosary M, Alkofide H, Alrasheed MM, Colak D, Kaya N. Al-Muhaizea MA, et al. Among authors: al bakheet a. Ann Hum Genet. 2022 Jan;86(1):34-44. doi: 10.1111/ahg.12445. Epub 2021 Sep 28. Ann Hum Genet. 2022. PMID: 34582042
Bioactivity properties of hydroxyapatite/clay nanocomposites.
Ofudje EA, Akande JA, Sodiya EF, Ajayi GO, Ademoyegun AJ, Al-Sehemi AG, Kavil YN, Bakheet AM. Ofudje EA, et al. Among authors: bakheet am. Sci Rep. 2023 Nov 14;13(1):19896. doi: 10.1038/s41598-023-45646-7. Sci Rep. 2023. PMID: 37963905 Free PMC article.
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
Aldosary M, Al-Bakheet A, Al-Dhalaan H, Almass R, Alsagob M, Al-Younes B, AlQuait L, Mustafa OM, Bulbul M, Rahbeeni Z, Alfadhel M, Chedrawi A, Al-Hassnan Z, AlDosari M, Al-Zaidan H, Al-Muhaizea MA, AlSayed MD, Salih MA, AlShammari M, Faiyaz-Ul-Haque M, Chishti MA, Al-Harazi O, Al-Odaib A, Kaya N, Colak D. Aldosary M, et al. Among authors: al bakheet a. OMICS. 2020 Mar;24(3):160-171. doi: 10.1089/omi.2019.0192. Epub 2020 Feb 27. OMICS. 2020. PMID: 32105570
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.
Kaya N, Alsagob M, D'Adamo MC, Al-Bakheet A, Hasan S, Muccioli M, Almutairi FB, Almass R, Aldosary M, Monies D, Mustafa OM, Alyounes B, Kenana R, Al-Zahrani J, Naim E, Binhumaid FS, Qari A, Almutairi F, Meyer B, Plageman TF, Pessia M, Colak D, Al-Owain M. Kaya N, et al. Among authors: al bakheet a. J Med Genet. 2016 Nov;53(11):786-792. doi: 10.1136/jmedgenet-2015-103637. Epub 2016 Aug 31. J Med Genet. 2016. PMID: 27582084
Autism spectrum disorder in a child with propionic acidemia.
Al-Owain M, Kaya N, Al-Shamrani H, Al-Bakheet A, Qari A, Al-Muaigl S, Ghaziuddin M. Al-Owain M, et al. Among authors: al bakheet a. JIMD Rep. 2013;7:63-6. doi: 10.1007/8904_2012_143. Epub 2012 Mar 31. JIMD Rep. 2013. PMID: 23430497 Free PMC article.
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.
Alsagob M, Salih MA, Hamad MHA, Al-Yafee Y, Al-Zahrani J, Al-Bakheet A, Nester M, Sakati N, Wakil SM, AlOdaib A, Colak D, Kaya N. Alsagob M, et al. Among authors: al bakheet a. Mol Cytogenet. 2019 May 18;12:21. doi: 10.1186/s13039-019-0432-6. eCollection 2019. Mol Cytogenet. 2019. PMID: 31131027 Free PMC article.
40 results