Christopher M Grochowski Selected Research

Lissencephaly

1/2023

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.

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Christopher M Grochowski Research Topics

Disease

3	Neurodevelopmental Disorders 12/2023 - 10/2019
2	Microcephaly 01/2023 - 11/2019
2	Psychotic Disorders (Schizoaffective Disorder) 10/2019 - 01/2018
1	Lissencephaly 01/2023
1	Autoimmune limbic encephalitis 01/2022
1	Glioma (Gliomas) 01/2022
1	Brain Diseases (Brain Disorder) 01/2021
1	Amelogenesis Imperfecta 01/2021
1	Chromosome Inversion (Chromosomal Inversion) 11/2020
1	Intestinal Diseases (Diseases, Intestinal) 01/2020
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2020
1	Pelizaeus-Merzbacher Disease 12/2019
1	Schizophrenia (Dementia Praecox) 10/2019
1	Arthrogryposis 01/2019
1	Intellectual Disability (Idiocy) 01/2019
1	Bipolar Disorder (Manic Depressive Psychosis) 01/2018
1	Biliary Atresia 02/2014

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2023 - 11/2019
1	Bicarbonates (Hydrogen Carbonate)IBA 12/2023
1	SodiumIBA 12/2023
1	Chloride-Bicarbonate AntiportersIBA 12/2023
1	DNA (Deoxyribonucleic Acid)IBA 10/2023
1	Codon (Codons)IBA 01/2023
1	anti-leucine-rich glioma-inactivated 1 autoantibodyIBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	Sodium Citrate FDA LinkGeneric 01/2021
1	ChromiumIBA 11/2020
1	NucleotidesIBA 11/2020
1	TubulinIBA 11/2019
1	Glycine Dehydrogenase (Decarboxylating)IBA 10/2019
1	RNA Helicases (RNA Helicase)IBA 01/2019
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2019
1	Genetic Markers (Genetic Marker)IBA 01/2018

Therapy/Procedure

1	Therapeutics 10/2019
1	Liver Transplantation 02/2014