Search research articles
Contact Us
Filters
Showing results (41-50 of 63) with videos related to
Page
of 7
Sort By:
Scientific Reports
|
August 28, 2019
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism
Osama Y Al-Dirbashi, Majid Alfadhel, Khalid Al-Thihli, et al.
Clinical Genetics
|
November 16, 2020
Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset
Khalid Al-Thihli, Cassian Afting, Nadia Al-Hashmi, et al.
JIMD Reports
|
October 13, 2018
Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience
Naresh P Shanmugam, Joseph J Valamparampil, Mettu Srinivas Reddy, et al.
Journal of Clinical Immunology
|
November 3, 2022
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study
Salem Al-Tamemi, Shoaib Al-Zadjali, Zandre Bruwer, et al.
Journal of Perinatal Medicine
|
August 20, 2017
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience
Zandrè Bruwer, Nihal Al Riyami, Tamima Al Dughaishi, et al.
International Journal of Developmental Disabilities
|
April 7, 2023
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder
Watfa Al-Mamari, Ahmed B Idris, Khalid Al-Thihli, et al.
Pediatric Transplantation
|
September 2, 2023
Domino liver transplantation for maple syrup urine disease in children: A single-center case series
Vikram Kumar, Vipul Gautam, Shaleen Agarwal, et al.
Clinical Genetics
|
December 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain
Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, et al.
Genome Biology and Evolution
|
November 29, 2022
Joint Analysis of Phenotypic and Genomic Diversity Sheds Light on the Evolution of Xenobiotic Metabolism in Humans
Médéric Mouterde, Youssef Daali, Victoria Rollason, et al.
AJNR. American Journal of Neuroradiology
|
September 29, 2025
Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction
Diego Cardoso Fragoso, Eiman Al-Ajmi, Agustin M Cardenas, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 63) with videos related to
Sort By:
Page
of 7
Scientific Reports
|
August 28, 2019
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism
Osama Y Al-Dirbashi, Majid Alfadhel, Khalid Al-Thihli, et al.
Clinical Genetics
|
November 16, 2020
Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset
Khalid Al-Thihli, Cassian Afting, Nadia Al-Hashmi, et al.
JIMD Reports
|
October 13, 2018
Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience
Naresh P Shanmugam, Joseph J Valamparampil, Mettu Srinivas Reddy, et al.
Journal of Clinical Immunology
|
November 3, 2022
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study
Salem Al-Tamemi, Shoaib Al-Zadjali, Zandre Bruwer, et al.
Journal of Perinatal Medicine
|
August 20, 2017
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience
Zandrè Bruwer, Nihal Al Riyami, Tamima Al Dughaishi, et al.
International Journal of Developmental Disabilities
|
April 7, 2023
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder
Watfa Al-Mamari, Ahmed B Idris, Khalid Al-Thihli, et al.
Pediatric Transplantation
|
September 2, 2023
Domino liver transplantation for maple syrup urine disease in children: A single-center case series
Vikram Kumar, Vipul Gautam, Shaleen Agarwal, et al.
Clinical Genetics
|
December 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain
Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, et al.
Genome Biology and Evolution
|
November 29, 2022
Joint Analysis of Phenotypic and Genomic Diversity Sheds Light on the Evolution of Xenobiotic Metabolism in Humans
Médéric Mouterde, Youssef Daali, Victoria Rollason, et al.
AJNR. American Journal of Neuroradiology
|
September 29, 2025
Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction
Diego Cardoso Fragoso, Eiman Al-Ajmi, Agustin M Cardenas, et al.
Page
of 7