Jamal Ghoumid Selected Research

Cerebellar hypoplasia with endosteal sclerosis

1/2017

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

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Jamal Ghoumid Research Topics

Disease

2	Cohen syndrome 01/2019 - 12/2015
1	De Lange Syndrome (Cornelia De Lange Syndrome) 07/2022
1	Leukoencephalopathies 01/2021
1	Neurodevelopmental Disorders 01/2021
1	Cysts 01/2021
1	Hereditary Spastic Paraplegia 10/2020
1	Polymicrogyria 10/2020
1	Autoimmune Diseases (Autoimmune Disease) 01/2020
1	Neutropenia 01/2019
1	Infections 01/2019
1	Intellectual Disability (Idiocy) 01/2018
1	Cerebellar hypoplasia with endosteal sclerosis 01/2017
1	Anodontia (Hypodontia) 01/2017
1	Atrophy 01/2017
1	Cleft Lip (Harelip) 01/2017
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2017
1	Stomach Neoplasms (Stomach Cancer) 01/2017
1	Type 2 Diabetes Mellitus (MODY) 12/2015
1	Insulin Resistance 12/2015
1	Diabetes Mellitus 12/2015
1	Mucopolysaccharidoses 03/2012
1	Mucopolysaccharidosis IV (Morquio Syndrome) 03/2012

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2021 - 12/2015
2	Biological ProductsIBA 01/2020 - 01/2019
1	RNA (Ribonucleic Acid)IBA 07/2022
1	Small Nucleolar RNA (snoRNA)IBA 01/2021
1	IronIBA 10/2020
1	Adaptor Protein Complex 4IBA 10/2020
1	SerpinsIBA 01/2019
1	Histone MethyltransferasesIBA 01/2018
1	2-(N-cyclohexylamino)ethanesulfonic acid (CHES)IBA 01/2017
1	Cadherins (E-Cadherin)IBA 01/2017
1	Insulin (Novolin)FDA Link 12/2015
1	Glucose (Dextrose)FDA LinkGeneric 12/2015
1	SulfatasesIBA 03/2012
1	GalactosidasesIBA 03/2012
1	EnzymesIBA 03/2012