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Marzena Kucharczyk

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Molecular Genetics & Genomic Medicine|April 28, 2020
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromesAleksandra Jezela-Stanek, Elżbieta Ciara, Dorota Jurkiewicz, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|May 28, 2015
11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiencyDorota Jurkiewicz, Monika Kugaudo, Anna Tańska, et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia|March 2, 2016
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variantAleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, et al.
Journal of Clinical Medicine|April 30, 2020
Breakpoint Mapping of Symptomatic Balanced Translocations Links the <i>EPHA6</i>, <i>KLF13</i> and <i>UBR3</i> Genes to Novel Disease PhenotypeVictor Murcia Pienkowski, Marzena Kucharczyk, Małgorzata Rydzanicz, et al.
Journal of Medical Genetics|October 25, 2018
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to <i>EFNA5</i>, <i>BAHD1</i> and <i>PPP2R5E</i> as novel candidates for genes causing human Mendelian disordersVictor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, et al.
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Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 15 results.
Molecular Genetics & Genomic Medicine|April 28, 2020
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromesAleksandra Jezela-Stanek, Elżbieta Ciara, Dorota Jurkiewicz, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|May 28, 2015
11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiencyDorota Jurkiewicz, Monika Kugaudo, Anna Tańska, et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia|March 2, 2016
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variantAleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, et al.
Journal of Clinical Medicine|April 30, 2020
Breakpoint Mapping of Symptomatic Balanced Translocations Links the <i>EPHA6</i>, <i>KLF13</i> and <i>UBR3</i> Genes to Novel Disease PhenotypeVictor Murcia Pienkowski, Marzena Kucharczyk, Małgorzata Rydzanicz, et al.
Journal of Medical Genetics|October 25, 2018
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to <i>EFNA5</i>, <i>BAHD1</i> and <i>PPP2R5E</i> as novel candidates for genes causing human Mendelian disordersVictor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, et al.
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