Thomas Smol Selected Research

Anodontia (Hypodontia)

1/2017

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.

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Thomas Smol Research Topics

Disease

5	Neurodevelopmental Disorders 10/2023 - 01/2017
4	Intellectual Disability (Idiocy) 01/2021 - 01/2019
2	Epilepsy (Aura) 03/2024 - 01/2023
1	Brachydactyly 04/2024
1	Ectodermal Dysplasia (Aplasia Cutis Congenita) 04/2024
1	Telangiectasis (Telangiectasia) 04/2024
1	Brain Diseases (Brain Disorder) 03/2024
1	Idiopathic Generalized Epilepsy 01/2024
1	De Lange Syndrome (Cornelia De Lange Syndrome) 12/2022
1	Fever (Fevers) 01/2022
1	Autistic Disorder (Autism) 01/2022
1	Seizures (Absence Seizure) 01/2022
1	Emphysema 01/2021
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 11/2020
1	Polymicrogyria 10/2020
1	Snijders Blok-Campeau syndrome 10/2020
1	Hereditary Spastic Paraplegia 10/2020
1	Meningioma (Meningiomas) 01/2020
1	Autism Spectrum Disorder 01/2020
1	Crohn Disease (Crohn's Disease) 02/2019
1	GATA2 Deficiency 01/2019
1	BCR-ABL Positive Chronic Myelogenous Leukemia (Chronic Myelogenous Leukemia) 01/2019
1	Chromosome Aberrations (Chromosome Abnormalities) 01/2019
1	Cerebellar hypoplasia with endosteal sclerosis 01/2017
1	Multiple Myeloma 01/2017
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2017
1	Atrophy 01/2017
1	Anodontia (Hypodontia) 01/2017

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 01/2023 - 01/2019
1	Protein Kinases (Protein Kinase)IBA 04/2024
1	Cyclic NucleotidesIBA 03/2024
1	Member 2 Group F Nuclear Receptor Subfamily 1IBA 01/2024
1	Biomarkers (Surrogate Marker)IBA 10/2023
1	UbiquitinIBA 06/2023
1	Cullin Proteins (Cullins)IBA 06/2023
1	Ligases (Synthetase)IBA 06/2023
1	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2023
1	RNA (Ribonucleic Acid)IBA 12/2022
1	NucleotidesIBA 01/2022
1	GasesIBA 01/2021
1	FilaminsIBA 01/2021
1	DNA Transposable Elements (Element, IS)IBA 01/2021
1	Cytoplasmic DyneinsIBA 11/2020
1	Adaptor Protein Complex 4IBA 10/2020
1	IronIBA 10/2020
1	DNA HelicasesIBA 10/2020
1	Factor VII (Proconvertin)IBA 01/2020
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020
1	Peptidoglycan (Murein)IBA 02/2019
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2019
1	Tyrosine Kinase InhibitorsIBA 01/2019
1	Immunoglobulin Heavy Chains (Immunoglobulin Heavy Chain)IBA 01/2017
1	2-(N-cyclohexylamino)ethanesulfonic acid (CHES)IBA 01/2017
1	CohesinsIBA 01/2017

Therapy/Procedure

1	Toothbrushing 01/2022