Tatjana Bierhals Selected Research

Proteins (Proteins, Gene)

1/2022	Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
1/2021	Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
1/2021	New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
1/2019	de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.
4/2015	Phenotypic and molecular insights into CASK-related disorders in males.

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Tatjana Bierhals Research Topics

Disease

5	Intellectual Disability (Idiocy) 01/2022 - 01/2019
5	Neurodevelopmental Disorders 01/2021 - 11/2018
2	Seizures (Absence Seizure) 01/2022 - 01/2021
1	Movement Disorders (Movement Disorder) 01/2022
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Disease Progression 01/2021
1	Muscle Spasticity (Spastic) 01/2020
1	Epilepsy (Aura) 12/2019
1	Arthrogryposis 01/2019
1	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 04/2015
1	Brain Diseases (Brain Disorder) 04/2015
1	Pain (Aches) 11/2012
1	Osteoporosis 11/2012
1	of childhood progressive pseudorheumatoid Arthropathy 11/2012

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2022 - 04/2015
1	Protons (Proton)IBA 01/2021
1	AnionsIBA 01/2021
1	Ion Channels (Ion Channel)IBA 01/2021
1	Calcium Channels (Calcium Channel)IBA 01/2020
1	Extracellular Matrix ProteinsIBA 01/2020
1	VitaminsIBA 12/2019
1	RNA Polymerase II (RNA Polymerase B)IBA 01/2019
1	Untranslated RNA (Noncoding RNA)IBA 01/2019
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2019
1	Biological ProductsIBA 01/2019
1	Small Nuclear Ribonucleoproteins (snRNP)IBA 01/2019
1	RNA Helicases (RNA Helicase)IBA 01/2019
1	Adenosine Triphosphatases (ATPase)IBA 11/2018
1	Tuberculin (PPD)IBA 11/2012