Publications by authors named "Magdalena Badura-Stronka"

16Publications

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.

Epilepsy Behav 2020 05 1;106:107036. Epub 2020 Apr 1.

Department of Developmental Neurology, Poznan University of Medical Sciences, Przybyszewskiego 49, 60-355 Poznan, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2020.107036DOI Listing
May 2020

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

Eur J Med Genet 2020 Apr 23;63(4):103799. Epub 2019 Oct 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103799DOI Listing
April 2020

Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.

Folia Neuropathol 2019 ;57(3):285-294

Chair and Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.5114/fn.2019.88459DOI Listing
February 2020

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Co-occurrence of Jalili syndrome and muscular overgrowth.

Am J Med Genet A 2017 Aug 6;173(8):2280-2283. Epub 2017 Jun 6.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1002/ajmg.a.38318DOI Listing
August 2017

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

Birth Defects Res A Clin Mol Teratol 2015 Jun 16;103(6):567-72. Epub 2015 Mar 16.

Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, Australia.

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http://doi.wiley.com/10.1002/bdra.23354
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http://dx.doi.org/10.1002/bdra.23354DOI Listing
June 2015

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

Birth Defects Res A Clin Mol Teratol 2014 Oct 5;100(10):764-71. Epub 2014 Sep 5.

Department of Medical Genetics, Poznan University of Medical Sciences, Poland.

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http://dx.doi.org/10.1002/bdra.23298DOI Listing
October 2014

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.

Mitochondrion 2013 Nov 6;13(6):831-4. Epub 2013 Jun 6.

Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland; Center for Medical Genetics GENESIS, Poznań, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2013.05.011DOI Listing
November 2013