Majid Alfadhel Selected Research

Aneuploidy (Aneuploid)

1/2021

Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia.

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Majid Alfadhel Research Topics

Disease

7	Seizures (Absence Seizure) 01/2022 - 10/2011
7	Microcephaly 11/2021 - 01/2015
6	Methylmalonic acidemia 10/2021 - 01/2016
6	Muscle Hypotonia (Hypotonia) 12/2020 - 10/2011
6	Inborn Errors Metabolism (Inborn Errors of Metabolism) 09/2019 - 06/2013
5	Basal Ganglia Diseases (Basal Ganglia Disease) 10/2022 - 06/2013
5	Brain Diseases (Brain Disorder) 01/2022 - 01/2014
5	Propionic Acidemia 10/2021 - 01/2018
5	Intellectual Disability (Idiocy) 12/2020 - 10/2011
4	Nonketotic Hyperglycinemia 01/2019 - 09/2014
3	Hyperammonemia 10/2021 - 12/2017
3	Polydactyly (Polydactylism) 01/2021 - 01/2019
3	Epilepsy (Aura) 12/2020 - 07/2012
3	Language Development Disorders (Semantic-Pragmatic Disorder) 04/2019 - 07/2012
3	VLCAD deficiency 01/2019 - 01/2018
3	Atrophy 12/2018 - 12/2017
3	biotin-responsive Basal ganglia disease 01/2018 - 06/2013
3	Quadriplegia (Spastic Quadriplegia) 01/2016 - 06/2013
2	Infections 01/2022 - 01/2018
2	Ataxia (Dyssynergia) 01/2022 - 01/2017
2	Cardiomyopathies (Cardiomyopathy) 01/2022 - 10/2019
2	Methylenetetrahydrofolate reductase deficiency 12/2020 - 01/2019
2	Cystinuria 01/2020 - 01/2017
2	Muscular Diseases (Myopathy) 10/2019 - 01/2017
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 10/2019 - 12/2017
2	Hypoglycemia (Reactive Hypoglycemia) 01/2019 - 09/2014
2	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2018 - 01/2017
2	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 11/2018 - 01/2018
2	Failure to Thrive 01/2018 - 10/2011
2	Nervous System Diseases (Neurological Disorders) 01/2017 - 01/2017
1	Glioma (Gliomas) 01/2022
1	Type V 3-Methylglutaconic Aciduria 01/2022
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2022
1	Early Onset Severe Retinal Dystrophy 08/2021
1	Retinal Dystrophies 08/2021
1	Microvillus inclusion disease 08/2021
1	Ciliopathies 06/2021
1	Scoliosis 01/2021
1	Congenital Abnormalities (Deformity) 01/2021
1	Photophobia (Light Sensitivity) 01/2021
1	Cataract (Cataracts) 01/2021
1	Restrictive Cardiomyopathy 01/2021
1	Aneuploidy (Aneuploid) 01/2021
1	Rare Diseases (Rare Disease) 01/2021
1	Eye Abnormalities (Eye Abnormality) 12/2020
1	Autonomic Nervous System Diseases (Dysautonomia) 12/2020
1	Hypoventilation 12/2020
1	Infarction (Infarctions) 12/2020
1	Necrosis 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2019
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 10/2019
1	Prostatic Neoplasms (Prostate Cancer) 10/2019
1	Carcinogenesis 10/2019

Drug/Important Bio-Agent (IBA)

10	Thiamine (Aneurin)FDA Link 10/2022 - 07/2012
9	Proteins (Proteins, Gene)FDA Link 01/2022 - 12/2016
9	EnzymesIBA 12/2020 - 01/2011
6	Biotin (Vitamin H)FDA Link 10/2022 - 06/2013
4	Nonsense Codon (Nonsense Mutation)IBA 01/2021 - 01/2018
4	Pharmaceutical PreparationsIBA 07/2019 - 06/2013
3	Fatty Acids (Saturated Fatty Acids)IBA 01/2019 - 01/2018
3	Mitochondrial DNA (mtDNA)IBA 01/2018 - 03/2014
3	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2014 - 01/2012
2	carglumic acid FDA Link 10/2021 - 01/2019
2	Retinaldehyde (Retinal)IBA 08/2021 - 06/2018
2	Cystine (L-Cystine)IBA 01/2020 - 01/2017
2	NucleotidesIBA 04/2019 - 01/2017
2	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 01/2019 - 01/2018
2	Dopamine (Intropin)FDA LinkGeneric 01/2019 - 01/2014
2	Serotonin (5 Hydroxytryptamine)IBA 01/2019 - 01/2014
2	Tuberculin (PPD)IBA 01/2019 - 01/2019
2	Methylmalonyl-CoA MutaseIBA 01/2019 - 01/2016
2	Glycine Plasma Membrane Transport ProteinsIBA 01/2019 - 11/2016
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2019 - 11/2016
2	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2018 - 10/2011
2	Aspartate-Ammonia Ligase (Asparagine Synthetase)IBA 01/2016 - 01/2015
1	Metalloproteases (Metalloproteinases)IBA 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	3-methylglutaconic acidIBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	dichloromaleic acid (DCMA)IBA 01/2022
1	DisintegrinsIBA 01/2022
1	3-methylglutaric acidIBA 01/2022
1	acid labile subunit insulin-like growth factor binding proteinIBA 11/2021
1	AmmoniaIBA 10/2021
1	Biomarkers (Surrogate Marker)IBA 10/2021
1	Coat Protein Complex I (COPI)IBA 01/2021
1	DNA (Deoxyribonucleic Acid)IBA 01/2021
1	MorpholinosIBA 01/2021
1	dichlorobis(azomycin)platinum IIIBA 01/2021
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 12/2020
1	Monomeric GTP-Binding ProteinsIBA 01/2020
1	Mitogen-Activated Protein KinasesIBA 01/2020
1	MetalsIBA 12/2019
1	ConnectinIBA 10/2019
1	Transfer RNA (tRNA)IBA 10/2019
1	RNase ZIBA 10/2019
1	Mitochondrial RNAIBA 10/2019
1	acylcarnitineIBA 09/2019

Therapy/Procedure

4	Therapeutics 12/2018 - 01/2014
1	Length of Stay 10/2021