Elisa Rahikkala

Elisa Rahikkala

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Elisa Rahikkala

Elisa Rahikkala

Publications by authors named "Elisa Rahikkala"

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Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.

Seizure 2019 Jul 19;69:99-104. Epub 2019 Mar 19.

PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Biocenter Oulu, University of Oulu, Oulu, Finland; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, Oulu, Finland.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311173083
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http://dx.doi.org/10.1016/j.seizure.2019.03.010DOI Listing
July 2019

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.

Br J Haematol 2019 Apr 13;185(2):354-357. Epub 2018 Jul 13.

Department of Molecular Medicine and Surgery, Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1111/bjh.15494DOI Listing
April 2019

Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis.

Neuropediatrics 2017 12 30;48(6):467-472. Epub 2017 Jun 30.

PEDEGO Research Unit (Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology), University of Oulu, Oulu, Finland.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1603976
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http://dx.doi.org/10.1055/s-0037-1603976DOI Listing
December 2017

Ataxia-pancytopenia syndrome with mutations.

Neurol Genet 2017 Oct 24;3(5):e183. Epub 2017 Aug 24.

Sections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570676PMC
October 2017

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Mol Genet Metab 2017 04 6;120(4):337-341. Epub 2017 Feb 6.

Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.003DOI Listing
April 2017

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

Eur J Med Genet 2014 Oct 29;57(10):543-51. Epub 2014 Jul 29.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Haartman Institute, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.07.002DOI Listing
October 2014

Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation.

Eur J Med Genet 2013 Jul 22;56(7):389-96. Epub 2013 May 22.

Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland.

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http://dx.doi.org/10.1016/j.ejmg.2013.05.004DOI Listing
July 2013

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Neurogenetics 2013 Feb 6;14(1):53-61. Epub 2012 Nov 6.

Department of Human Genetics, Ruhr University, 44780 Bochum, Germany.

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http://dx.doi.org/10.1007/s10048-012-0347-4DOI Listing
February 2013