Bryn D Webb Selected Research

Sensorineural Hearing Loss

6/2015

Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.

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Bryn D Webb Research Topics

Disease

3	Muscle Hypotonia (Hypotonia) 01/2021 - 06/2015
2	congenital fibrosis of the extraocular muscles 12/2021 - 02/2013
1	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 01/2023
1	Malformations of Cortical Development 12/2021
1	Microcephaly 11/2021
1	Intellectual Disability (Idiocy) 11/2021
1	Tremor (Tremors) 01/2021
1	Ataxia (Dyssynergia) 01/2021
1	Atrophy 01/2020
1	Congenital Heart Defects (Congenital Heart Defect) 01/2020
1	Necrosis 01/2020
1	Nervous System Diseases (Neurological Disorders) 01/2020
1	Seizures (Absence Seizure) 01/2018
1	Epilepsia Partialis Continua 01/2018
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2018
1	Leigh Disease (Leigh's Disease) 08/2017
1	Urogenital Abnormalities 01/2017
1	Imperforate Anus 01/2017
1	Pectus Carinatum 06/2015
1	Sensorineural Hearing Loss 06/2015
1	Kallmann Syndrome (Kallmann's Syndrome) 02/2013
1	Strabismus (Squint) 02/2013

Drug/Important Bio-Agent (IBA)

2	TubulinIBA 12/2021 - 02/2013
2	Proteins (Proteins, Gene)FDA Link 01/2020 - 02/2013
2	Ligases (Synthetase)IBA 01/2018 - 06/2015
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2023
1	Amino Acids FDA Link 01/2023
1	Choline (Choline Chloride)IBA 01/2023
1	protein N-terminal acetyltransferaseIBA 11/2021
1	Transcription Factor Brn-3AIBA 01/2021
1	Monomeric GTP-Binding ProteinsIBA 01/2020
1	Basic Helix-Loop-Helix Transcription FactorsIBA 01/2020
1	Mitogen-Activated Protein KinasesIBA 01/2020
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	EnzymesIBA 01/2018
1	Transfer RNA (tRNA)IBA 01/2018
1	Valine-tRNA LigaseIBA 01/2018
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2018
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2018
1	Protein Subunits (Protein Subunit)IBA 08/2017
1	beta CateninIBA 01/2017
1	NucleotidesIBA 06/2015
1	Amino Acyl Transfer RNAIBA 06/2015
1	KinesinsIBA 02/2013
1	DNA (Deoxyribonucleic Acid)IBA 02/2013

Therapy/Procedure

1	Precision Medicine 01/2020