Author/Creator: Jurkiewicz, Dorota - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Jurkiewicz, Dorota

1. 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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2. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family. Issue 1 (9th September 2016)

Authors:: Jurkiewicz, Dorota; Kugaudo, Monika; Skórka, Agata; Śmigiel, Robert; Smyk, Marta; Ciara, Elżbieta; Chrzanowska, Krystyna; Krajewska‐Walasek, Małgorzata
Journal:: American journal of medical genetics
Issue:: Volume 173:Issue 1(2017)
Page Start:: 72
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. Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype. Issue 3 (July 2019)

Authors:: Jezela-Stanek, Aleksandra; Murcia, Pienkowski Victor; Jurkiewicz, Dorota; Iwanicka-Pronicka, Katarzyna; Jędrzejowska, Maria; Krajewska-Walasek, Małgorzata; Płoski, Rafał
Journal:: Clinical dysmorphology
Issue:: Volume 28:Issue 3(2019:Jul.)
Page Start:
Record Type:: Journal Article
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5. 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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