K. Al-Thihli

发表

Genomic newborn screening: public health policy considerations and recommendations

Erick R. Scott, S. Kingsmore, B. Knoppers, 2017, BMC Medical Genomics.

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population

Z. Bruwer, Khalid Al-Thihli, A. Al-Kindy, 2015, Journal of Autism and Developmental Disorders.

Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study

Z. Bruwer, A. Al-Maawali, S. Naseem, 2022, Journal of Clinical Immunology.

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

A. Al-Asmi, Z. Bruwer, F. Zadjali, 2022, Scientific Reports.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

D. Wieczorek, J. Altmüller, Yun Li, 2022, Clinical genetics.

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

Y. Daali, V. Rollason, M. Černá, 2022, Genome biology and evolution.

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation.

C. Garel, N. Boddaert, J. Baptista, 2022, American journal of human genetics.

Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period

Z. Bruwer, A. Al-Maawali, Maryam Al Shehhi, 2022, Journal of Community Genetics.

Title: Recessive PRDM13 mutations cause severe brainstem dysfunction with perinatal lethality, cerebellar hypoplasia and disrupt Purkinje cell differentiation

C. Garel, N. Boddaert, A. Laquérriere, 2022 .

Genomic newborn screening: public health policy considerations and recommendations

Erick R. Scott, S. Kingsmore, B. Knoppers, 2017, BMC Medical Genomics.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

H. Mizumoto, S. Wortmann, S. Grünert, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Autosomal recessive NOTCH3-related leukodystrophy in two siblings and review of the literature

A. Ganesh, A. Al-Maawali, Fatema Al-Amrani, 2023, Pediatric Neurology.

Biallelic mutation of SUPV3L1 causes an inherited leukodystrophy-associated neurodevelopmental disorder due to aberrant mitochondrial double stranded RNA processing

R. Maroofian, D. Calame, K. Õunap, 2023, medRxiv.

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Eiman Al-Ajmi, K. Al-Thihli, Fatma Al-Jasmi, 2023, Orphanet Journal of Rare Diseases.

Establishment and Validation of Reference Values for Amino Acids and Acylcarnitines in Dried Blood Spots for Omani Newborns Using Tandem Mass Spectrometry

Khalid Al-Thihli, Sulaiman Al-Riyami, Matar Al-Manei, 2022, Oman medical journal.

MLIP-Associated Myopathy: A Case Report and Review of the Literature.

A. Al-Maawali, G. Narayanappa, F. Al Amrani, 2023, Journal of neuromuscular diseases.

Safety of the Geneva Cocktail, a Cytochrome P450 and P-Glycoprotein Phenotyping Cocktail, in Healthy Volunteers from Three Different Geographic Origins

Y. Daali, V. Rollason, M. Černá, 2020, Drug Safety.