Personal information

Other IDs

Loop profile: 588093
Scopus Author ID: 24777873400

Activities

Collapse all

Works (8)

Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency

American Journal of Medical Genetics Part A
2025-02 | Journal article
DOI: 10.1002/ajmg.a.63900
Contributors: Fatema Al‐Amrani; Jos P. N. Ruiter; Mirjam Doolaard; Alok Kumar; Sacha Ferdinandusse; Khalid Al‐Thihli
Source: check_circle
Crossref

Joint Analysis of Phenotypic and Genomic Diversity Sheds Light on the Evolution of Xenobiotic Metabolism in Humans

Genome Biology and Evolution
2022-12-07 | Journal article
DOI: 10.1093/gbe/evac167
Contributors: Médéric Mouterde; Youssef Daali; Victoria Rollason; Martina Čížková; Anwar Mulugeta; Khalid A Al Balushi; Giannoulis Fakis; Theodoros C Constantinidis; Khalid Al-Thihli; Marie Černá et al.
Source: check_circle
Crossref

Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency

European Journal of Human Genetics
2022-08 | Journal article
DOI: 10.1038/s41431-021-00995-7
Contributors: Bushra Al Shamsi; Fathiya Al Murshedi; Asila Al Habsi; Khalid Al-Thihli
Source: check_circle
Crossref

Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect

Genes
2022-01-28 | Journal article
DOI: 10.3390/genes13020248
Contributors: Badriya Al-Alawi; Beena Harikrishna; Khalid Al-Thihli; Sana Al Zuhabi; Anuradha Ganesh; Zainab Al Hashami; Zeyana Al Dhamhmani; Razan Zadjali; Nafila B. Al Riyami; Fahad Zadjali
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset

Clinical Genetics
2021-03 | Journal article
DOI: 10.1111/cge.13883
Contributors: Khalid Al‐Thihli; Cassian Afting; Nadia Al‐Hashmi; Mohammed Mohammed; Svenja Sliwinski; Naema Al Shibli; Khoula Al‐Said; Ghalia Al‐Kasbi; Khalsa Al‐Kharusi; Uta Merle et al.
Source: check_circle
Crossref

Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23

Clinical Genetics
2020-04 | Journal article
DOI: 10.1111/cge.13678
Contributors: Amna Al‐Futaisi; Faraz Ahmad; Ghalia Al‐Kasbi; Khalid Al‐Thihli; Roshan Koul; Almundher Al‐Maawali
Source: check_circle
Crossref

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

Clinical Genetics
2018-12 | Journal article
DOI: 10.1111/cge.13438
Contributors: Maryam Al‐Nabhani; Samiya Al‐Rashdi; Fathiya Al‐Murshedi; Adila Al‐Kindi; Khalid Al‐Thihli; Abeer Al‐Saegh; Amna Al‐Futaisi; Watfa Al‐Mamari; Fahad Zadjali; Almundher Al‐Maawali
Source: check_circle
Crossref

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities

Clinical Genetics
2018-10 | Journal article
DOI: 10.1111/cge.13387
Contributors: J. Suleiman; A.M. Al Hashem; B. Tabarki; K. Al‐Thihli; W. Bi; A.W. El‐Hattab
Source: check_circle
Crossref

Peer review (1 review for 1 publication/grant)

Review activity for Heliyon. (1)
How many people are using ORCID?