Joanna Kosinska

Joanna Kosinska

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Joanna Kosinska

Joanna Kosinska

Publications by authors named "Joanna Kosinska"

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46Publications

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FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.

Clin Genet 2019 Sep 10;96(3):274-275. Epub 2019 Jul 10.

Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.

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http://dx.doi.org/10.1111/cge.13592DOI Listing
September 2019

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Parkinsonism Relat Disord 2019 05 24;62:239-241. Epub 2019 Jan 24.

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.017DOI Listing
May 2019

A Novel Monoallelic Nonsense Mutation in the Gene Does Not Cause a Clinical Manifestation.

Front Genet 2019 26;10:140. Epub 2019 Feb 26.

Department of General Biochemistry, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland.

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http://dx.doi.org/10.3389/fgene.2019.00140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399389PMC
February 2019

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

Adv Exp Med Biol 2017 ;980:59-66

Department of Medical Genetics, Warsaw Medical University, 3C Pawinskiego Street, 02-106, Warsaw, Poland.

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http://dx.doi.org/10.1007/5584_2016_206DOI Listing
September 2017

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

Am J Med Genet A 2016 12 8;170(12):3241-3248. Epub 2016 Sep 8.

Department of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1002/ajmg.a.37860DOI Listing
December 2016

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

Am J Med Genet A 2016 12 8;170(12):3265-3270. Epub 2016 Sep 8.

Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.

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http://dx.doi.org/10.1002/ajmg.a.37887DOI Listing
December 2016

Positive effects of egg-derived phospholipids in patients with metabolic syndrome.

Adv Med Sci 2016 Mar 13;61(1):169-74. Epub 2016 Jan 13.

Department of Internal Medicine, 4th Military Hospital, Wroclaw, Poland; Division of Angiology, Wroclaw Medical University, Wroclaw, Poland.

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http://dx.doi.org/10.1016/j.advms.2015.12.003DOI Listing
March 2016

Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation.

Eur J Med Genet 2016 Jan 10;59(1):43-7. Epub 2015 Dec 10.

Department of Paediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.12.004DOI Listing
January 2016

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.

Eur J Dermatol 2013 May-Jun;23(3):404-6

Department of Dermatology, Medical University of Warsaw, Chałubińskiego 5, 02-004 Warsaw, Poland.

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http://dx.doi.org/10.1684/ejd.2013.2013DOI Listing
November 2015

DIS3 shapes the RNA polymerase II transcriptome in humans by degrading a variety of unwanted transcripts.

Genome Res 2015 Nov 20;25(11):1622-33. Epub 2015 Aug 20.

Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 02-106 Warsaw, Poland; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 02-106 Warsaw, Poland;

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http://dx.doi.org/10.1101/gr.189597.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617959PMC
November 2015

A cautionary note on using binary calls for analysis of DNA methylation.

Bioinformatics 2015 May 13;31(9):1519-20. Epub 2015 Feb 13.

Institute of Computer Science, Polish Academy of Sciences, Jana Kazimierza 5, Warsaw, Poland, Department of Medical Genetics, Medical University of Warsaw, Pawińskiego 3c, Warsaw, Poland, Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, Banacha 2, Warsaw, Poland, Department of Immunology, Center for Biostructure Research, Medical University of Warsaw, Banacha 2, Warsaw, Poland, Central Forensic Laboratory of the Police, Aleje Ujazdowskie 7, Warsaw, Poland and Institute of Forensic Research, Westerplatte 9, Krakow, Poland.

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http://dx.doi.org/10.1093/bioinformatics/btv090DOI Listing
May 2015

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

Hum Mutat 2014 Oct 7;35(10):1171-4. Epub 2014 Aug 7.

Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland; Institute of Physiology and Pathology of Hearing, Warsaw, Poland.

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http://dx.doi.org/10.1002/humu.22620DOI Listing
October 2014

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

Circ Res 2014 Jan;114(2):e2-5

From the Department of Medical Genetics (R.P., J.K.) and Department of Immunology, Center for Biostructure Research (P.S.), Medical University of Warsaw, Warsaw, Poland; Institute of Physiology and Pathology of Hearing, Warsaw, Poland (A.P.); Medizinische Klinik 1, Leopoldina Krankenhaus, Schweinfurt, Germany (S.M., H.S.); and Laboratory of Molecular Biology (M.F.), Unit for Screening Studies in Inherited Cardiovascular Diseases (E.M., Z.T.B.), and Cardiac Magnetic Resonance Unit (M.S.), Institute of Cardiology, Warsaw, Poland.

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http://dx.doi.org/10.1161/CIRCRESAHA.114.302662DOI Listing
January 2014

Polymorphism of the oestrogen receptor beta gene (ESR2) is associated with susceptibility to Graves' disease.

Clin Endocrinol (Oxf) 2008 Mar 17;68(3):429-34. Epub 2007 Oct 17.

Department of Internal Diseases and Rheumatology, Military Institute of Health Services, Postgraduate School of Molecular Medicine, Warsaw, Poland.

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http://dx.doi.org/10.1111/j.1365-2265.2007.03060.xDOI Listing
March 2008

Technical aspects of portal technology application for e-health systems.

Stud Health Technol Inform 2004 ;105:12-20

Department of Computer Science, AGH University of Science and Technology.

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March 2005