Malin Kvarnung Selected Research

Nucleotides

11/2019

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

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Malin Kvarnung Research Topics

Disease

4	Autistic Disorder (Autism) 08/2022 - 01/2019
4	Intellectual Disability (Idiocy) 11/2019 - 12/2014
2	Neurodevelopmental Disorders 09/2023 - 01/2021
2	Epilepsy (Aura) 08/2022 - 11/2018
2	Ataxia (Dyssynergia) 01/2019 - 08/2017
1	Osteoporosis 08/2022
1	Spinocerebellar ataxia 21 06/2022
1	congenital fibrosis of the extraocular muscles 12/2021
1	Malformations of Cortical Development 12/2021
1	Rare Diseases (Rare Disease) 01/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 10/2020
1	Overweight 01/2018
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 11/2017
1	Schmid-Fraccaro syndrome 05/2012

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 09/2023 - 06/2022
1	Adenosine Triphosphate (ATP)IBA 09/2023
1	A 17 (A-17)IBA 08/2022
1	TubulinIBA 12/2021
1	Heterogeneous-Nuclear Ribonucleoproteins (Informatin)IBA 01/2021
1	RNA-Induced Silencing ComplexIBA 10/2020
1	NucleotidesIBA 11/2019
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/2019
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2019
1	Protein Isoforms (Isoforms)IBA 01/2019
1	CalciumIBA 11/2018
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2018
1	choline transporterIBA 11/2017
1	Glutamate Receptors (Glutamate Receptor)IBA 08/2017
1	Carrier Proteins (Binding Protein)IBA 12/2014
1	Genetic Markers (Genetic Marker)IBA 05/2012

Therapy/Procedure

1	Genomic Medicine 01/2021
1	Surgical Instruments (Clip) 01/2019