Fowzan S Alkuraya Selected Research

Acrocallosal Syndrome

1/2015

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Fowzan S Alkuraya Research Topics

Disease

14	Microcephaly 11/2021 - 05/2011
12	Intellectual Disability (Idiocy) 01/2022 - 07/2013
10	Brain Diseases (Brain Disorder) 01/2022 - 10/2012
10	Ciliopathies 10/2020 - 08/2012
7	Cataract (Cataracts) 01/2021 - 07/2009
6	Agenesis of Cerebellar Vermis 01/2020 - 01/2014
6	Seizures (Absence Seizure) 07/2019 - 10/2013
6	Retinitis Pigmentosa (Pigmentary Retinopathy) 03/2016 - 03/2010
5	Muscle Hypotonia (Hypotonia) 12/2020 - 01/2016
4	Epilepsy (Aura) 01/2022 - 01/2013
4	Neurodevelopmental Disorders 01/2022 - 11/2017
4	Retinal Dystrophies 08/2021 - 03/2010
4	Neoplasms (Cancer) 01/2021 - 10/2016
3	Neurodegenerative Diseases (Neurodegenerative Disease) 07/2021 - 01/2011
3	Cholestasis 02/2021 - 01/2019
3	Deafness (Deaf Mutism) 11/2020 - 05/2009
3	Neoplasm Metastasis (Metastasis) 10/2020 - 01/2016
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 10/2012
3	Dwarfism 04/2017 - 02/2015
3	Leber Congenital Amaurosis 06/2013 - 02/2010
2	Hearing Loss (Hearing Impairment) 01/2022 - 01/2019
2	Ichthyosis (Xeroderma) 08/2021 - 11/2019
2	Liver Diseases (Liver Disease) 02/2021 - 01/2013
2	type 1 Stickler syndrome 01/2021 - 04/2015
2	Myopia 01/2021 - 01/2020
2	Carcinogenesis 01/2021 - 01/2016
2	Genomic Instability 01/2018 - 04/2017
2	Fibrosis (Cirrhosis) 01/2018 - 11/2013
2	Atrophy 12/2017 - 03/2010
2	Hydrocephalus (Hydrocephaly) 06/2017 - 01/2013
2	Rare Diseases (Rare Disease) 05/2017 - 01/2017
2	Meckel syndrome type 1 11/2016 - 01/2014
2	Adams Oliver syndrome 10/2016 - 08/2011
2	Failure to Thrive 10/2016 - 01/2016
2	Pontocerebellar Hypoplasia 07/2016 - 01/2016
2	Neu Laxova syndrome 01/2016 - 06/2014
2	Congenital Abnormalities (Deformity) 10/2013 - 03/2008
2	congenital stationary Night blindness 03/2013 - 02/2010
2	Genetic Translocation (Chromosomal Translocation) 05/2007 - 09/2006
1	Insulin Resistance 03/2022
1	Fatty Liver 03/2022
1	Acanthosis Nigricans 03/2022
1	Glioma (Gliomas) 01/2022
1	Hereditary renal agenesis 01/2022
1	Holoprosencephaly (Arhinencephaly) 01/2022
1	Infertility (Sterility) 01/2022
1	Microvillus inclusion disease 08/2021
1	Early Onset Severe Retinal Dystrophy 08/2021
1	Thrombocytopenia (Thrombopenia) 08/2021
1	Neurofibromatosis 1 (Neurofibromatosis Type I) 07/2021
1	Wilms Tumor (Wilm's Tumor) 02/2021
1	Keratosis 01/2021
1	Cheilitis 01/2021

Drug/Important Bio-Agent (IBA)

26	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2011
11	Retinaldehyde (Retinal)IBA 08/2021 - 02/2010
8	EnzymesIBA 01/2022 - 01/2013
8	Transfer RNA (tRNA)IBA 01/2022 - 10/2012
5	Transcription Factors (Transcription Factor)IBA 02/2021 - 05/2007
4	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 03/2010
4	c-Mer Tyrosine KinaseIBA 03/2016 - 03/2010
3	Pharmaceutical PreparationsIBA 01/2022 - 01/2016
3	Biological ProductsIBA 07/2021 - 09/2015
3	Mitochondrial DNA (mtDNA)IBA 01/2018 - 04/2012
3	UbiquitinIBA 05/2017 - 09/2006
3	Crystallins (Crystallin)IBA 06/2012 - 07/2009
2	Leucine (L-Leucine)FDA Link 01/2022 - 11/2013
2	gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA 02/2021 - 01/2019
2	RNA (Ribonucleic Acid)IBA 01/2021 - 12/2018
2	CollagenIBA 01/2021 - 01/2018
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2019 - 01/2017
2	KinesinsIBA 01/2019 - 01/2015
2	CalciumIBA 11/2017 - 12/2015
2	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 06/2017 - 01/2013
2	Phosphotransferases (Kinase)IBA 10/2016 - 01/2016
2	splicing endonucleaseIBA 07/2016 - 01/2016
2	Serine (L-Serine)FDA Link 01/2016 - 06/2014
2	Monomeric GTP-Binding ProteinsIBA 06/2014 - 07/2012
2	CholesterolIBA 05/2013 - 08/2005
2	Calcium-Binding ProteinsIBA 03/2013 - 02/2010
2	LipidsIBA 01/2013 - 06/2012
2	Mydriatics (Cycloplegics)IBA 05/2012 - 03/2012
1	Triglycerides (Triacylglycerol)IBA 03/2022
1	Inosine Triphosphate (ITP)IBA 01/2022
1	Inosine TriphosphataseIBA 01/2022
1	PyrophosphatasesIBA 01/2022
1	DisintegrinsIBA 01/2022
1	purineIBA 01/2022
1	Glutamine (L-Glutamine)FDA Link 01/2022
1	nephronectinIBA 01/2022
1	Metalloproteases (Metalloproteinases)IBA 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	Type C PhospholipasesIBA 01/2022
1	diphthamideIBA 01/2022
1	protein N-terminal acetyltransferaseIBA 11/2021
1	3-ketodihydrosphingosine reductaseIBA 08/2021
1	Neurofibromin 1 (Neurofibromin)IBA 07/2021
1	Rifampin (Rifampicin)FDA LinkGeneric 02/2021
1	SteroidsIBA 02/2021
1	Hypoglycemic Agents (Hypoglycemics)IBA 12/2020

Therapy/Procedure

6	Therapeutics 10/2020 - 04/2012