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New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.
Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H. Salih MA, et al. Among authors: alkhalidi hm. PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. PLoS One. 2013. PMID: 24130795 Free PMC article.
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS. Monies D, et al. Among authors: alkhalidi h. Genet Med. 2017 Oct;19(10):1144-1150. doi: 10.1038/gim.2017.22. Epub 2017 Apr 6. Genet Med. 2017. PMID: 28383543 Free article.
Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS. Monies D, et al. Among authors: alkhalidi h. Genet Med. 2018 Mar;20(3):380. doi: 10.1038/gim.2017.203. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300385 Free article.
Duane retraction syndrome in a patient with Duchenne muscular dystrophy.
Bosley TM, Salih MA, Alkhalidi H, Oystreck DT, El Khashab HY, Kondkar AA, Abu-Amero KK. Bosley TM, et al. Among authors: alkhalidi h. Ophthalmic Genet. 2016 Sep;37(3):276-80. doi: 10.3109/13816810.2015.1039139. Epub 2016 Feb 5. Ophthalmic Genet. 2016. PMID: 26849454
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.
Ali Alghamdi M, Benabdelkamel H, Masood A, Saheb Sharif-Askari N, Hachim MY, Alsheikh H, Hamad MH, Salih MA, Bashiri FA, Alhasan K, Kashour T, Guatibonza Moreno P, Schröder S, Karageorgou V, Bertoli-Avella AM, Alkhalidi H, Jamjoom DZ, Alorainy IA, Alfadda AA, Halwani R. Ali Alghamdi M, et al. Among authors: alkhalidi h. Front Genet. 2022 Jun 23;13:806190. doi: 10.3389/fgene.2022.806190. eCollection 2022. Front Genet. 2022. PMID: 35812735 Free PMC article.
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HM, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: alkhalidi hm. Neurogenetics. 2010 Oct;11(4):449-55. doi: 10.1007/s10048-010-0250-9. Epub 2010 Jul 13. Neurogenetics. 2010. PMID: 20623375 Free PMC article.
226 results