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9 results for Wisniewska,+Marzena

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ArticlesPeer ReviewedFull Text
DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Author / Creator:Beauregard-Lacroix, Eliane ; Pacheco-Cuellar, Guillermo ; Ajeawung, Norbert F. ; Tardif, Jessica ; Dieterich, Klaus ; Dabir, Tabib ; Vind-Kezunovic, Dina ; White, Susan M. ; Zadori, Denes ; Castiglioni, Claudia ; Tranebjærg, Lisbeth ; Tørring, Pernille Mathiesen ; Blair, Ed ; Wisniewska, Marzena ; Camurri, Maria Vittoria ; van Bever, Yolande ; Molidperee, Sirinart ; Taylor, Juliet ; Dionne-Laporte, Alexandre ; Sisodiya, Sanjay M. ; Hennekam, Raoul C.M. ; Campeau, Philippe M.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-01, Vol.23 (1), p.149-154
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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Author / Creator:Beauregard-Lacroix, Eliane ; Pacheco-Cuellar, Guillermo ; Ajeawung, Norbert F. ; Tardif, Jessica ; Dieterich, Klaus ; Dabir, Tabib ; Vind-Kezunovic, Dina ; White, Susan M. ; Zadori, Denes ; Castiglioni, Claudia ; Tranebjærg, Lisbeth ; Tørring, Pernille Mathiesen ; Blair, Ed ; Wisniewska, Marzena ; Camurri, Maria Vittoria ; van Bever, Yolande ; Molidperee, Sirinart ; Taylor, Juliet ; Dionne-Laporte, Alexandre ; Sisodiya, Sanjay M. ; Hennekam, Raoul C.M. ; Campeau, Philippe M.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-01, Vol.23 (1), p.237-237
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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome
Author / Creator:Budny, Bartlomiej ; Chen, Wei ; Omran, Heymut ; Fliegauf, Manfred ; Tzschach, Andreas ; Wisniewska, Marzena ; Jensen, Lars R. ; Raynaud, Martine ; Shoichet, Sarah A. ; Badura, Magda ; Lenzner, Steffen ; Latos-Bielenska, Anna ; Ropers, Hans-Hilger
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2006-09, Vol.120 (2), p.171-178
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Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland
Author / Creator:Wozniak, Anna ; Wolnik-Brzozowska, Danuta ; Wisniewska, Marzena ; Glazar, Renata ; Materna-Kiryluk, Anna ; Moszura, Tomasz ; Badura-Stronka, Magdalena ; Skolozdrzy, Joanna ; Krawczynski, Maciej R ; Zeyland, Joanna ; Bobkowski, Waldemar ; Slomski, Ryszard ; Latos-Bielenska, Anna ; Siwinska, Aldona
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2010-12, Vol.10 (1), p.88-88, Article 88
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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome
Author / Creator:Jakubiak, Aleksandra ; Szczałuba, Krzysztof ; Badura-Stronka, Magdalena ; Kutkowska-Kaźmierczak, Anna ; Jakubiuk-Tomaszuk, Anna ; Chilarska, Tatiana ; Pilch, Jacek ; Braun-Walicka, Natalia ; Castaneda, Jennifer ; Wołyńska, Katarzyna ; Wiśniewska, Marzena ; Kugaudo, Monika ; Bielecka, Monika ; Pesz, Karolina ; Wierzba, Jolanta ; Latos-Bieleńska, Anna ; Obersztyn, Ewa ; Krajewska-Walasek, Małgorzata ; Śmigiel, Robert
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2021-09, Vol.62 (3), p.477-485
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The genetic basis of DOORS syndrome: an exome-sequencing study
Author / Creator:Campeau, Philippe M, MD ; Kasperaviciute, Dalia, PhD ; Lu, James T, PhD ; Burrage, Lindsay C, PhD ; Kim, Choel, PhD ; Hori, Mutsuki, MD ; Powell, Berkley R, MD ; Stewart, Fiona, MBBS ; Félix, Têmis Maria, PhD ; van den Ende, Jenneke, MD ; Wisniewska, Marzena, PhD ; Kayserili, Hülya, MD ; Rump, Patrick, PhD ; Nampoothiri, Sheela, MSc ; Aftimos, Salim, MD ; Mey, Antje, MD ; Nair, Lal D V, MD ; Begleiter, Michael L, MSc ; De Bie, Isabelle, PhD ; Meenakshi, Girish, MBBS ; Murray, Mitzi L, MD ; Repetto, Gabriela M, MD ; Golabi, Mahin, MD ; Blair, Edward, MD ; Male, Alison, MD ; Giuliano, Fabienne, MD ; Kariminejad, Ariana, MD ; Newman, William G ; Bhaskar, Sanjeev S ; Dickerson, Jonathan E ; Kerr, Bronwyn ; Banka, Siddharth ; Giltay, Jacques C, PhD ; Wieczorek, Dagmar, MD ; Tostevin, Anna, MSc ; Wiszniewska, Joanna, MD ; Cheung, Sau Wai, Prof ; Hennekam, Raoul C, Prof ; Gibbs, Richard A, Prof ; Lee, Brendan H, Prof ; Sisodiya, Sanjay M, Prof
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2014, Vol.13 (1), p.44-58
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Long-term changes in the phytoplankton of Lake Charzykowskie
Author / Creator:Winiewska, Marzena ; Luciska, Marta
Publisher:Heidelberg: SP Versita
Journal title:Oceanological and hydrobiological studies, 2012-09, Vol.41 (3), p.90-98
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ArticlesPeer ReviewedFull Text
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
Author / Creator:Budny, Bartlomiej ; Chen, Wei ; Omran, Heymut ; Fliegauf, Manfred ; Tzschach, Andreas ; Wisniewska, Marzena ; Jensen, Lars R ; Raynaud, Martine ; Shoichet, Sarah A ; Badura, Magda ; Lenzner, Steffen ; Latos-Bielenska, Anna ; Ropers, Hans-Hilger
Publisher:Germany: Springer Nature B.V
Journal title:Human genetics, 2006-09, Vol.120 (2), p.171-178
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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly
Author / Creator:Dawidziuk, Mateusz ; Gambin, Tomasz ; Bukowska-Olech, Ewelina ; Antczak-Marach, Dorota ; Badura-Stronka, Magdalena ; Buda, Piotr ; Budzynska, Edyta ; Castaneda, Jennifer ; Chilarska, Tatiana ; Czyzyk, Elzbieta ; Eckersdorf-Mastalerz, Anna ; Fijak-Moskal, Jolanta ; Gieruszczak-Bialek, Dorota ; Glodek-Brzozowska, Ewelina ; Goszczanska-Ciuchta, Alicja ; Grzeszykowska-Podymniak, Malgorzata ; Gurda, Barbara ; Jakubiuk-Tomaszuk, Anna ; Jamroz, Ewa ; Janeczko, Magdalena ; Jedlińska-Pijanowska, Dominika ; Jurek, Marta ; Karolewska, Dagmara ; Kazmierczak, Adela ; Kleist, Teresa ; Kochanowska, Iwona ; Krajewska-Walasek, Malgorzata ; Kufel, Katarzyna ; Kutkowska-Kaźmierczak, Anna ; Lipiec, Agata ; Maksym-Gasiorek, Dorota ; Materna-Kiryluk, Anna ; Mazurkiewicz, Hanna ; Milewski, Michał ; Pavina-Guglas, Tatsiana ; Pietrzyk, Aleksandra ; Posmyk, Renata ; Pyrkosz, Antoni ; Rudzka-Dybala, Mariola ; Slezak, Ryszard ; Wisniewska, Marzena ; Zalewska-Miszkurka, Zofia ; Szczepanik, Elzbieta ; Obersztyn, Ewa ; Bekiesinska-Figatowska, Monika ; Gawlinski, Pawel ; Wiszniewski, Wojciech
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-12, Vol.12 (12), p.2014
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DOORS syndrome and a recurrent truncating ATP6V1B2 variant

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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

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Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

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The genetic basis of DOORS syndrome: an exome-sequencing study

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Long-term changes in the phytoplankton of Lake Charzykowskie

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

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