Alfadhel M - Search Results

1

Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.

Alyafee Y, Al Tuwaijri A, Umair M, Alharbi M, Haddad S, Ballow M, Alayyar L, Alam Q, Althenayyan S, Al Ghilan N, Al Khaldi A, Faden MS, Al Sufyan H, Alfadhel M. Alyafee Y, et al. Among authors: alfadhel m. Front Genet. 2022 Nov 3;13:1047474. doi: 10.3389/fgene.2022.1047474. eCollection 2022. Front Genet. 2022. PMID: 36406136 Free PMC article.

2

Tetrasomy 18p: case report and review of literature.

Bawazeer S, Alshalan M, Alkhaldi A, AlAtwi N, AlBalwi M, Alswaid A, Alfadhel M. Bawazeer S, et al. Among authors: alfadhel m. Appl Clin Genet. 2018 Feb 8;11:9-14. doi: 10.2147/TACG.S153469. eCollection 2018. Appl Clin Genet. 2018. PMID: 29467581 Free PMC article.

3

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.

4

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.

5

MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature.

Al Tuwaijri A, Alfadhel M. Al Tuwaijri A, et al. Among authors: alfadhel m. J Pediatr Endocrinol Metab. 2019 Apr 24;32(4):409-413. doi: 10.1515/jpem-2018-0505. J Pediatr Endocrinol Metab. 2019. PMID: 30796847 Review.

6

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

7

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.

8

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.

9

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.

10

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.

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