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Noninvasive prenatal testing of aneuploidies: where are we now?

Jezela-Stanek, Aleksandra ; Krajewska-Walasek, Małgorzata

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia, September 2014, Vol.36(9), pp.383-6 [Rivista Peer Reviewed]

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Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Hartig, Monika b ; Iuso, Arcangela ; Haack, Tobias ; Kmiec, Tomasz ; Jurkiewicz, Elzbieta ; Heim, Katharina ; Roeber, Sigrun ; Tarabin, Victoria ; Dusi, Sabrina ; Krajewska-Walasek, Malgorzata ; Jozwiak, Sergiusz ; Hempel, Maja ; Winkelmann, Juliane ; Elstner, Matthias ; Oexle, Konrad ; Klopstock, Thomas ; Mueller-Felber, Wolfgang ; Gasser, Thomas ; Trenkwalder, Claudia

The American Journal of Human Genetics, 2011, Vol.89(4), pp.543-550 [Rivista Peer Reviewed]

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Noninvasive prenatal testing of aneuploidies: where are we now?

Jezela-Stanek, Aleksandra ; Krajewska-Walasek, Małgorzata

Revista Brasileira de Ginecologia e Obstetrícia, 01 September 2014, Vol.36(9), pp.383-386 [Rivista Peer Reviewed]

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Genetic causes of syndromic craniosynostoses

Jezela-Stanek, Aleksandra ; Krajewska-Walasek, Małgorzata

European Journal of Paediatric Neurology, May 2013, Vol.17(3), pp.221-224 [Rivista Peer Reviewed]

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Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

Draaken, Markus ; Giesen, Carmen ; Kesselheim, Anne ; Jabs, Ronald ; Aretz, Stefan ; Kugaudo, Monika ; Chrzanowska, Krystyna ; Krajewska-Walasek, Malgorzata ; Ludwig, Michael

Human Genetics, 2011, Vol.129(5), pp.513-519 [Rivista Peer Reviewed]

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1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review

Jezela-Stanek, Aleksandra ; Kucharczyk, Marzena ; Pelc, Magdalena ; Gutkowska, Anna ; Krajewska-Walasek, Małgorzata

American journal of medical genetics. Part A, January 2013, Vol.161A(1), pp.172-8 [Rivista Peer Reviewed]

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Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes

Iwanicka-Pronicka, Katarzyna ; Socha, Magdalena ; Jędrzejowska, Maria ; Krajewska-Walasek, Małgorzata ; Jamsheer, Aleksander

SpringerPlus, 2016, Vol.5(1), pp.1-5 [Rivista Peer Reviewed]

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Polish activity within Orphanet Europe--state of art of database and services

Jezela-Stanek, Aleksandra ; Karczmarewicz, Dorota ; Chrzanowska, Krystyna H ; Krajewska-Walasek, Małgorzata

Developmental period medicine, 2015, Vol.19(4), pp.536-41 [Rivista Peer Reviewed]

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1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review

Jezela‐Stanek, Aleksandra ; Kucharczyk, Marzena ; Pelc, Magdalena ; Gutkowska, Anna ; KrajewskaWalasek, Małgorzata

American Journal of Medical Genetics Part A, January 2013, Vol.161(1), pp.172-178 [Rivista Peer Reviewed]

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Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Clayton-Smith, Jill ; O'Sullivan, James ; Daly, Sarah ; Bhaskar, Sanjeev ; Day, Ruth ; Anderson, Beverley ; Voss, Anne k ; Thomas, Tim ; Biesecker, Leslie g ; Smith, Philip ; Fryer, Alan ; Chandler, Kate e ; Kerr, Bronwyn ; Tassabehji, May ; Lynch, Sally-Ann ; Krajewska-Walasek, Malgorzata

The American Journal of Human Genetics, 11 November 2011, Vol.89(5), pp.675-681 [Rivista Peer Reviewed]

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da questo autore/creatore:

  1. Krajewska-Walasek, M.
  2. Krajewska-Walasek, Małgorzata
  3. Krajewska-Walasek, Malgorzata
  4. Chrzanowska, Krystyna
  5. Ciara, Elżbieta

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