Alfadhel M - Search Results

1

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D).

Umair M, Khan A, Hayat A, Abbas S, Asiri A, Younus M, Amin W, Nawaz S, Khan S, Malik E, Alfadhel M, Ahmad F. Umair M, et al. Among authors: alfadhel m. Front Pediatr. 2019 Aug 28;7:343. doi: 10.3389/fped.2019.00343. eCollection 2019. Front Pediatr. 2019. PMID: 31555621 Free PMC article.

2

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.

3

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.

4

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

5

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.

6

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.

7

Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review.

AlSaif S, Umair M, Alfadhel M. AlSaif S, et al. Among authors: alfadhel m. J Cent Nerv Syst Dis. 2019 May 15;11:1179573519849938. doi: 10.1177/1179573519849938. eCollection 2019. J Cent Nerv Syst Dis. 2019. PMID: 31205438 Free PMC article.

8

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation.

Barhoumi T, Nashabat M, Alghanem B, Alhallaj A, Boudjelal M, Umair M, Alarifi S, Alfares A, Mohrij SAA, Alfadhel M. Barhoumi T, et al. Among authors: alfadhel m. Front Genet. 2019 Jun 5;10:534. doi: 10.3389/fgene.2019.00534. eCollection 2019. Front Genet. 2019. PMID: 31275352 Free PMC article.

9

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.

Alfadhel M, Umair M, Almuzzaini B, Alsaif S, AlMohaimeed SA, Almashary MA, Alharbi W, Alayyar L, Alasiri A, Ballow M, AlAbdulrahman A, Alaujan M, Nashabat M, Al-Odaib A, Altwaijri W, Al-Rumayyan A, Alrifai MT, Alfares A, AlBalwi M, Tabarki B. Alfadhel M, et al. Ann Clin Transl Neurol. 2019 Oct;6(10):2097-2103. doi: 10.1002/acn3.50898. Epub 2019 Sep 26. Ann Clin Transl Neurol. 2019. PMID: 31557427 Free PMC article.

10

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Khan A, Wang R, Han S, Umair M, Abbas S, Khan MI, Alshabeeb MA, Alfadhel M, Zhang X. Khan A, et al. Among authors: alfadhel m. BMC Med Genet. 2019 Oct 29;20(1):166. doi: 10.1186/s12881-019-0895-7. BMC Med Genet. 2019. PMID: 31664938 Free PMC article.

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