Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Molecular and clinical spectra of FBXL4 deficiency.
Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6.
Hum Mutat. 2017.
PMID: 28940506
Review.
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
Al-Muhaizea MA, AlMutairi F, Almass R, AlHarthi S, Aldosary MS, Alsagob M, AlOdaib A, Colak D, Kaya N.
Al-Muhaizea MA, et al.
Cerebellum. 2018 Jun;17(3):276-285. doi: 10.1007/s12311-017-0893-2.
Cerebellum. 2018.
PMID: 29196973
Review.
Item in Clipboard
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N.
Alfadhel M, et al. Among authors: almutairi fb.
Eur J Paediatr Neurol. 2018 Jan;22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16.
Eur J Paediatr Neurol. 2018.
PMID: 29122497
Item in Clipboard
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: almutairi fb.
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
Item in Clipboard
Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Al-Hassnan ZN, Albawardi W, Almutairi F, AlMass R, AlBakheet A, Mustafa OM, AlQuait L, Shinwari ZMA, Wakil S, Salih MA, Al-Fayyadh M, Hassan SM, Aljoufan M, Al-Nakhli O, Levy B, AlMaarik B, Al-Hakami HA, Alsagob M, Colak D, Kaya N.
Al-Hassnan ZN, et al.
Mol Cytogenet. 2018 Jan 25;11:9. doi: 10.1186/s13039-018-0356-6. eCollection 2018.
Mol Cytogenet. 2018.
PMID: 29416564
Free PMC article.
Item in Clipboard
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N.
Sanderson LE, et al.
Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459.
Brain. 2021.
PMID: 33764426
Free PMC article.
Item in Clipboard
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N.
Chelban V, et al. Among authors: almutairi fb.
Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17.
Eur J Neurol. 2020.
PMID: 31509304
Free PMC article.
Item in Clipboard
Factors influencing occurrence of peritonitis in Saudi children on peritoneal dialysis.
Al Mokali K, Al Sannaa Z, Al Mutairi F, Ahmed AE.
Al Mokali K, et al.
BMC Pediatr. 2020 Jan 29;20(1):42. doi: 10.1186/s12887-020-1936-2.
BMC Pediatr. 2020.
PMID: 31996157
Free PMC article.
Item in Clipboard
Cite
Cite