Jolanta Kubalska - Concepedia

Author

Jolanta Kubalska

Institute of Psychiatry and Neurology

Also Known As

J Kubalska, J. Kubalska, Jolanta Kubalska

Publications

436

Citations

H-Index

Concepts

All Affiliations

Institute of Psychiatry and Neurology Children's Memorial Health Institute Medical University of Silesia University of Life Sciences in Poznań Institute of Bioorganic Chemistry, Polish Academy of Sciences

About

Jolanta Kubalska is an author at Institute of Psychiatry and Neurology specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	263
2	Health Sciences	3	3	47
3	Biochemistry	2	2	76
4	Natural Sciences	1	1	43
5	Public Health	1	1	13

Jolanta Kubalska

Publications

369

Citations

H-Index

Page 1

	Year	Citations
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLR mutations Magdalena Chmara, Bartosz Wasąg, Monika Żuk, Journal of Applied Genetics Metabolic SyndromeFamilial HypercholesterolemiaLipid DisorderCardiovascular DiseasePolish Patients	2010	64
Identification of N-homocysteinylation sites in plasma proteins Marta Sikora, Łukasz Marczak, Jolanta Kubalska, Amino Acids Protein ChemistryBiochemistryNatural SciencesProtein EngineeringProteomics	2013	43
LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias Bartłomiej Górski, Jolanta Kubalska, Marek Naruszewicz, Human Genetics Polish Familial HypercholesterolemiasGeneticsHyperlipidemiaMedicineAtherosclerosis	1998	37
Simultaneous Determination of Methionine and Homocysteine by on-column derivatization with o-phtaldialdehyde Kamila Borowczyk, Grażyna Chwatko, Paweł Kubalczyk, Talanta BiochemistryMedicineBioanalysisAnalytical ChemistrySimultaneous Determination	2016	33
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients Ewelina Elert‐Dobkowska, Iwona Stępniak, Wioletta Krysa, Journal of the Neurological Sciences Rare DiseasesReep1 Gene MutationsPolish PatientsGenetic DisorderMedicine	2015	32
Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy Teresa Joanna Stradomska, Jolanta Kubalska, Roman Janas, European Journal of Endocrinology	2011	25
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Tamara Szymańska-Dębińska, Mitochondrion Polish ChildrenDevelopmental BiologySco2 DeficiencyGenetic DisorderGenetics	2013	19
The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4 H Lech, Jolanta Kubalska, Lucjan Wiśniewski Klinische Pädiatrie Short StatureCytogeneticsGeneticsClinical AnomaliesEmbryology	1982	19
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis Christina Hellerud, Maciej Adamowicz, Dorota Jurkiewicz, Molecular Genetics and Metabolism Somatic VariantGenetic DisorderMedicineGeneticsInherited Metabolic Disease	2003	18
The cystathionine ?-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype Michael Linnebank, Miroslav Janošı́k, Viktor Kožich, Human Mutation	2004	15

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