Suchergebnisse - Tadeusz Mazurczak

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  1. 1
    Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

    Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy von Agnieszka Sobczyńska‐Tomaszewska, Mariusz Ołtarzewski, Kamila Czerska, Katarzyna Wertheim‐Tysarowska, Dorota Sands, Jarosław Walkowiak, Jerzy Bal, Tadeusz Mazurczak

    Veröffentlicht 2012
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  2. 2
    Analysis of <i>CFTR</i>, <i>SPINK1</i>, <i>PRSS1</i> and <i>AAT</i> Mutations in Children With Acute or Chronic Pancreatitis

    Analysis of <i>CFTR</i>, <i>SPINK1</i>, <i>PRSS1</i> and <i>AAT</i> Mutations in Children With Acute or Chronic Pancreatitis von Agnieszka Sobczyńska‐Tomaszewska, Daniel Bąk, Beata Oralewska, Grzegorz Oracz, A. Norek, Kamila Czerska, Tadeusz Mazurczak, M Teisseyre, Jerzy Socha, Marek Zagulski, Jerzy Bal

    Veröffentlicht 2006
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  3. 3
    Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

    Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females von Magdalena Bartnik, Katarzyna Derwińska, Monika Goś, Ewa Obersztyn, Katarzyna Kołodziejska, Ayelet Erez, Agnieszka Szpecht-Potocka, Ping Fang, Iwona Terczyńska, Hanna Mierzewska, Naomi J. Lohr, Gary A. Bellus, Tyler Reimschisel, Ewa Bocian, Tadeusz Mazurczak, Sau Wai Cheung, Paweł Stankiewicz

    Veröffentlicht 2011
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  4. 4
    High Rate of Mosaicism in Tuberous Sclerosis Complex

    High Rate of Mosaicism in Tuberous Sclerosis Complex von Senno Verhoef, Lida Bakker, Anita M.P. Tempelaars, Arjenne L.W. Hesseling-Janssen, Tadeusz Mazurczak, Sergiusz Jóźwiak, A. Fois, G. Bartalini, Bernard A. Zonnenberg, Anthonie J. van Essen, Dick Lindhout, D. J. J. Halley, Ans M.W. van den Ouweland

    Veröffentlicht 1999
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  5. 5
    Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

    Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems von Melissa B. Ramocki, Magdalena Bartnik, Przemysław Szafrański, Katarzyna Kołodziejska, Zhilian Xia, Jaclyn Bravo, G. Steve Miller, Diana L. Rodríguez, Charles A. Williams, Patricia I. Bader, Elżbieta Szczepanik, Tomasz Mazurczak, Dorota Antczak‐Marach, James G. Coldwell, Cigdem I. Akman, Karen McAlmon, Melinda Cohen, James McGrath, Elizabeth Roeder, Jennifer M. Mueller, Sung‐Hae Kang, Carlos A. Bacino, Ankita Patel, Ewa Bocian, Chad A. Shaw, Sau Wai Cheung, Tadeusz Mazurczak, Paweł Stankiewicz

    Veröffentlicht 2010
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