Thomas Smol Selected Research

Cerebellar hypoplasia with endosteal sclerosis

1/2017

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

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Thomas Smol Research Topics

Disease

4	Intellectual Disability (Idiocy) 01/2021 - 01/2019
2	Neurodevelopmental Disorders 01/2021 - 01/2017
1	De Lange Syndrome (Cornelia De Lange Syndrome) 07/2022
1	Autistic Disorder (Autism) 01/2022
1	Emphysema 01/2021
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 11/2020
1	Snijders Blok-Campeau syndrome 10/2020
1	Hereditary Spastic Paraplegia 10/2020
1	Polymicrogyria 10/2020
1	Meningioma (Meningiomas) 01/2020
1	Autism Spectrum Disorder 01/2020
1	Crohn Disease (Crohn's Disease) 02/2019
1	Chromosome Aberrations (Chromosome Abnormalities) 01/2019
1	BCR-ABL Positive Chronic Myelogenous Leukemia (Chronic Myelogenous Leukemia) 01/2019
1	GATA2 Deficiency 01/2019
1	Atrophy 01/2017
1	Multiple Myeloma 01/2017
1	Anodontia (Hypodontia) 01/2017
1	Cerebellar hypoplasia with endosteal sclerosis 01/2017
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2017

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2019
1	RNA (Ribonucleic Acid)IBA 07/2022
1	NucleotidesIBA 01/2022
1	FilaminsIBA 01/2021
1	GasesIBA 01/2021
1	DNA Transposable Elements (Element, IS)IBA 01/2021
1	Cytoplasmic DyneinsIBA 11/2020
1	DNA HelicasesIBA 10/2020
1	IronIBA 10/2020
1	Adaptor Protein Complex 4IBA 10/2020
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020
1	Factor VII (Proconvertin)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	CohesinsIBA 01/2017
1	2-(N-cyclohexylamino)ethanesulfonic acid (CHES)IBA 01/2017