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Author/Creator Kucharczyk, Marzena

1. 1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review12. Issue 1 (19th November 2012)

Authors:
Jezela‐Stanek, Aleksandra; Kucharczyk, Marzena; Pelc, Magdalena; Gutkowska, Anna; Krajewska‐Walasek, Małgorzata
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 1(2013:Jan.)
Page Start:
172
Record Type:
Journal Article
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2. 11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency. Issue 3 (27th May 2015)

Authors:
Jurkiewicz, Dorota; Kugaudo, Monika; Tańska, Anna; Wawrzkiewicz‐Witkowska, Angelika; Tomaszewska, Agnieszka; Kucharczyk, Marzena; Cieślikowska, Agata; Ciara, Elżbieta; Krajewska‐Walasek, Małgorzata
Journal:
Pediatrics international
Issue:
Volume 57:Issue 3(2015)
Page Start:
486
Record Type:
Journal Article
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3. Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. Issue 6 (31st March 2016)

Authors:
Krajewska‐Walasek, Małgorzata; Jurkiewicz, Dorota; Piekutowska‐Abramczuk, Dorota; Kucharczyk, Marzena; Chrzanowska, Krystyna H.; Jezela‐Stanek, Aleksandra; Ciara, Elżbieta
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 6(2016)
Page Start:
1647
Record Type:
Journal Article
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4. Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders. Issue 2 (23rd October 2018)

Authors:
Murcia Pienkowski, Victor; Kucharczyk, Marzena; Młynek, Marlena; Szczałuba, Krzysztof; Rydzanicz, Małgorzata; Poszewiecka, Barbara; Skórka, Agata; Sykulski, Maciej; Biernacka, Anna; Koppolu, Agnieszka Anna; Posmyk, Renata; Walczak, Anna; Kosińska, Joanna; Krajewski, Paweł; Castaneda, Jennifer; Ob...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 2(2019)
Page Start:
104
Record Type:
Journal Article
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5. The first case of a patient with de novo partial distal 16q tetrasomy and a data's review4. Issue 10 (8th August 2014)

Authors:
Kucharczyk, Marzena; Kochański, Andrzej; Jezela‐Stanek, Aleksandra; Kugaudo, Monika; Sielska‐Rotblum, Danuta; Gutkowska, Anna; Krajewska‐Walasek, Małgorzata
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 10(2014.)
Page Start:
2541
Record Type:
Journal Article
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6. The first case of a patient with de novo partial distal 16q tetrasomy and a data's review4. Issue 10 (8th August 2014)

Authors:
Kucharczyk, Marzena; Kochański, Andrzej; Jezela‐Stanek, Aleksandra; Kugaudo, Monika; Sielska‐Rotblum, Danuta; Gutkowska, Anna; Krajewska‐Walasek, Małgorzata
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 10(2014.)
Page Start:
2541
Record Type:
Journal Article
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7. The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. Issue 9 (26th April 2020)

Authors:
Jezela‐Stanek, Aleksandra; Ciara, Elżbieta; Jurkiewicz, Dorota; Kucharczyk, Marzena; Jędrzejowska, Maria; Chrzanowska, Krystyna H.; Krajewska‐Walasek, Małgorzata; Żemojtel, Tomasz
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 9(2020)
Page Start:
n/a
Record Type:
Journal Article
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