Alfadhel M - Search Results

1

A Novel Homozygous Missense Mutation in the Zinc Finger DNA Binding Domain of GLI1 Causes Recessive Post-Axial Polydactyly.

Umair M, Ahmad F, Ahmad S, Alam Q, Rehan M, Alqosaibi AI, Alnamshan MM, Rafeeq MM, Haque S, Sain ZM, Ismail M, Alfadhel M. Umair M, et al. Among authors: alfadhel m. Front Genet. 2021 Oct 15;12:746949. doi: 10.3389/fgene.2021.746949. eCollection 2021. Front Genet. 2021. PMID: 34721536 Free PMC article.

2

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. Al-Hassnan ZN, et al. Among authors: alfadhel m. J Med Genet. 2015 Mar;52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24. J Med Genet. 2015. PMID: 25539947

3

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.

Alfadhel M, Nashabat M, Qahtani HA, Alfares A, Mutairi FA, Shaalan HA, Douglas GV, Wierenga K, Juusola J, Alrifai MT, Arold ST, Alkuraya F, Ali QA. Alfadhel M, et al. Hum Genet. 2016 Nov;135(11):1263-1268. doi: 10.1007/s00439-016-1719-x. Epub 2016 Aug 1. Hum Genet. 2016. PMID: 27481395 Free PMC article.

4

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.

Alsahli S, Arold ST, Alfares A, Alhaddad B, Al Balwi M, Kamsteeg EJ, Al-Twaijri W, Alfadhel M. Alsahli S, et al. Among authors: alfadhel m. Am J Med Genet A. 2018 Jul;176(7):1602-1609. doi: 10.1002/ajmg.a.38723. Epub 2018 May 7. Am J Med Genet A. 2018. PMID: 29736960

5

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.

Yavuz H, Bertoli-Avella AM, Alfadhel M, Al-Sannaa N, Kandaswamy KK, Al-Tuwaijri W, Rolfs A, Brandau O, Bauer P. Yavuz H, et al. Among authors: alfadhel m. Clin Genet. 2018 Oct;94(3-4):393-395. doi: 10.1111/cge.13386. Epub 2018 Jul 30. Clin Genet. 2018. PMID: 30059600

6

Clinical Genetics of Polydactyly: An Updated Review.

Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M. Umair M, et al. Among authors: alfadhel m. Front Genet. 2018 Nov 6;9:447. doi: 10.3389/fgene.2018.00447. eCollection 2018. Front Genet. 2018. PMID: 30459804 Free PMC article.

7

SGCD Homozygous Nonsense Mutation (p.Arg97^∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.

Younus M, Ahmad F, Malik E, Bilal M, Kausar M, Abbas S, Shaheen S, Kakar MU, Alfadhel M, Umair M. Younus M, et al. Among authors: alfadhel m. Front Genet. 2019 Jan 23;9:727. doi: 10.3389/fgene.2018.00727. eCollection 2018. Front Genet. 2019. PMID: 30733730 Free PMC article.

8

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb.

Umair M, Bilal M, Ali RH, Alhaddad B, Ahmad F, Abdullah, Haack TB, Alfadhel M, Ansar M, Meitinger T, Ahmad W. Umair M, et al. Among authors: alfadhel m. Clin Genet. 2019 Aug;96(2):134-139. doi: 10.1111/cge.13547. Epub 2019 Apr 22. Clin Genet. 2019. PMID: 30945277

9

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Massadeh S, Umair M, Alaamery M, Alfadhel M. Massadeh S, et al. Among authors: alfadhel m. Front Neurol. 2019 Apr 24;10:411. doi: 10.3389/fneur.2019.00411. eCollection 2019. Front Neurol. 2019. PMID: 31068897 Free PMC article.

10

Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.

Umair M, Wasif N, Albalawi AM, Ramzan K, Alfadhel M, Ahmad W, Basit S. Umair M, et al. Among authors: alfadhel m. Mol Genet Genomic Med. 2019 Jul;7(7):e00627. doi: 10.1002/mgg3.627. Epub 2019 May 21. Mol Genet Genomic Med. 2019. PMID: 31115189 Free PMC article.

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