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Items: 8

1.

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.

Eur J Neurol. 2019 Sep 11. doi: 10.1111/ene.14082. [Epub ahead of print]

PMID:
31509304
2.

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.

Mol Cytogenet. 2018 Jan 25;11:9. doi: 10.1186/s13039-018-0356-6. eCollection 2018.

3.

A new association between CDK5RAP2 microcephaly and congenital cataracts.

Alfares A, Alhufayti I, Alsubaie L, Alowain M, Almass R, Alfadhel M, Kaya N, Eyaid W.

Ann Hum Genet. 2018 May;82(3):165-170. doi: 10.1111/ahg.12232. Epub 2017 Dec 22.

PMID:
29271474
4.

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.

Cerebellum. 2018 Jun;17(3):276-285. doi: 10.1007/s12311-017-0893-2. Review.

PMID:
29196973
5.

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.

Eur J Paediatr Neurol. 2018 Jan;22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16.

PMID:
29122497
6.

Molecular and clinical spectra of FBXL4 deficiency.

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC.

Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Review.

PMID:
28940506
7.

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.

J Med Genet. 2016 Nov;53(11):786-792. doi: 10.1136/jmedgenet-2015-103637. Epub 2016 Aug 31.

PMID:
27582084
8.

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N.

J Med Genet. 2015 Mar;52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24.

PMID:
25539947

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