Resultats de la cerca - Aleksander Jamsheer

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  1. 1
    Split-hand/foot malformation - molecular cause and implications in genetic counseling

    Split-hand/foot malformation - molecular cause and implications in genetic counseling per Anna Sowińska‐Seidler, Magdalena Socha, Aleksander Jamsheer

    Publicat 2013
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  2. 2
    Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies

    Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies per Ewelina Bukowska‐Olech, Wiktoria Trzebiatowska, Wiktor Czech, Olga Drzymała, Piotr Frąk, Franciszek Klarowski, Piotr Kłusek, Anna Szwajkowska, Aleksander Jamsheer

    Publicat 2021
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  3. 3
    Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

    Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families per Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, Anna Sowińska‐Seidler, Sandra C. Doelken, Barbara Oehl‐Jaschkowitz, Wiebke Hülsemann, R. Habenicht, Eva Klopocki, Stefan Mundlos, Malte Spielmann

    Publicat 2014
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  4. 4
    Noncoding copy-number variations are associated with congenital limb malformation

    Noncoding copy-number variations are associated with congenital limb malformation per Ricarda Flöttmann, Bjørt K. Kragesteen, Sinje Geuer, Magdalena Socha, Lila Allou, Anna Sowińska‐Seidler, Laure Bosquillon de Jarcy, Johannes Maximilian Wagner, Aleksander Jamsheer, Barbara Oehl‐Jaschkowitz, Lars Wittler, Deepthi De Silva, Ingo Kurth, Idit Maya, Fernando Santos‐Simarro, Wiebke Hülsemann, Eva Klopocki, Roger Mountford, Alan Fryer, Guntram Borck, Denise Horn, Pablo Lapunzina, Meredith Wilson, Bénédicte Mascrez, Denis Duboule, Stefan Mundlos, Malte Spielmann

    Publicat 2017
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  5. 5
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome per Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam

    Publicat 2015
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