Isabella Herman Selected Research

Wieacker syndrome

1/2022

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

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Isabella Herman Research Topics

Disease

1	Wieacker syndrome 01/2022
1	Type IIB Hereditary Sensory And Autonomic Neuropathy 01/2022
1	Hyperhidrosis 01/2022
1	Osteomyelitis 01/2022
1	Urinary Incontinence 01/2022
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2022
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2022
1	Renal Insufficiency (Renal Failure) 01/2022
1	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 10/2021
1	Arthrogryposis 06/2021
1	Epilepsy (Aura) 01/2021
1	Status Epilepticus (Complex Partial Status Epilepticus) 01/2021
1	Brain Diseases (Brain Disorder) 01/2021
1	Morbid Obesity 10/2016

Drug/Important Bio-Agent (IBA)

1	muskIBA 01/2022
1	emerinIBA 10/2021
1	Proteins (Proteins, Gene)FDA Link 10/2021
1	Troponin T (Troponin T1)IBA 06/2021
1	Levetiracetam (Keppra)FDA LinkGeneric 01/2021
1	Pharmaceutical PreparationsIBA 01/2021
1	Cholinergic Agents (Cholinergics)IBA 10/2016

Therapy/Procedure

1	Surgical Amputation (Amputations) 01/2022