Khalid Al-Thihli (K Al-Thihli)

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 6

Top Topics

High Throughput

Autism Spectrum Disorder

Prognostic Factors

Top Venues

Clinical genetics

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

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
Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect. Genes 13 (2) (2022)
Bushra Al Shamsi, Fathiya Al Murshedi, Asila Al Habsi, Khalid Al-Thihli
Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency. European journal of human genetics : EJHG (2021)
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, Joachim Füllekrug, Almundher Al-Maawali
Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset. Clinical genetics 99 (3) (2020)
Amna Al-Futaisi, Faraz Ahmad, Ghalia Al-Kasbi, Khalid Al-Thihli, Roshan Koul, Almundher Al-Maawali
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23. Clinical genetics 97 (4) (2019)
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
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits. Clinical genetics 94 (6) (2018)
Jehan Suleiman, A M Al Hashem, B Tabarki, Khalid Al-Thihli, W Bi, Ayman W. El-Hattab
PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities. Clinical genetics 94 (3-4) (2018)