檢索結果 - Anne M.M. Oonk

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  1. 1
    Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness

    Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness 由 Esther H. Lips, Nadja Laddach, Suvi Savola, Marieke A. Vollebergh, Anne M.M. Oonk, Alex L.T. Imholz, Lodewyk F.A. Wessels, Jelle Wesseling, Petra M. Nederlof, Sjoerd Rodenhuis

    出版 2011
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  2. 2
    Triple-negative breast cancer: BRCAness and concordance of clinical features with BRCA1-mutation carriers

    Triple-negative breast cancer: BRCAness and concordance of clinical features with BRCA1-mutation carriers 由 Esther H. Lips, Lennart Mulder, Anne M.M. Oonk, Lizet E. van der Kolk, Frans B.L. Hogervorst, Alex L.T. Imholz, Jelle Wesseling, Sjoerd Rodenhuis, Petra M. Nederlof

    出版 2013
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  3. 3
    Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

    Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 由 Celia Zazo Seco, Anne M.M. Oonk, María Domínguez-Ruiz, Jos Draaisma, Marta Gandía, Jaap Oostrik, Kornelia Neveling, Henricus P. M. Kunst, Lies H. Hoefsloot, Ignacio del Castillo, Ronald J. E. Pennings, Hannie Kremer, R.J.C. Admiraal, Margit Schraders

    出版 2014
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  4. 4
    Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

    Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment 由 Margit Schraders, Laura Ruiz-Palmero, Ersan Kalay, Jaap Oostrik, Francisco Castillo, Orhan Sezgın, Andy J. Beynon, Tim M. Strom, Ronald J. E. Pennings, Celia Zazo Seco, Anne M.M. Oonk, Henricus P. M. Kunst, María Domínguez-Ruiz, Ana María García-Arumí, Miguel Del Campo, Manuela Villamar, Lies H. Hoefsloot, Felipe Moreno, R.J.C. Admiraal, Ignacio del Castillo, Hannie Kremer

    出版 2012
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  5. 5
    Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

    Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss 由 Kemal O. Yariz, Duygu Duman, Celia Zazo Seco, Julia E. Dallman, Mingqian Huang, Theo Peters, Aslı Sırmacı, Na Lü, Margit Schraders, Isaac Skromne, Jaap Oostrik, Oscar Diaz‐Horta, Juan I. Young, Suna Tokgöz-Yılmaz, Özlem Konukseven, Hashem Shahin, Lisette Hetterschijt, Moien Kanaan, Anne M.M. Oonk, Yvonne J. K. Edwards, Huawei Li, Semra Atalay, Susan H. Blanton, Alexandra A. DeSmidt, Xue-Zhong Liu, Ronald J. E. Pennings, Zhongmin Lu, Zheng‐Yi Chen, Hannie Kremer, Mustafa Tekin

    出版 2012
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  6. 6
    MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

    MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse 由 Mieke Wesdorp, Silvia Murillo‐Cuesta, Theo Peters, Adelaida M. Celaya, Anne M.M. Oonk, Margit Schraders, Jaap Oostrik, Elena Gómez-Rosas, Andy J. Beynon, Bas P. Hartel, Kees Okkersen, Hans J. P. M. Koenen, Jack Weeda, Stefan H. Lelieveld, Nicol C. Voermans, Irma Joosten, Carel B. Hoyng, Peter Lichtner, Henricus P. M. Kunst, Ilse Feenstra, Suzanne E. de Bruijn, R.J.C. Admiraal, Helger G. Yntema, Erwin van Wijk, Ignacio del Castillo, Pau Serra, Isabel Varela‐Nieto, Ronald J. E. Pennings, Hannie Kremer, M. F. van Dooren, H.H.W. de Gier, E. H. Hoefsloot, Marc P. van der Schroeff, Sarina G. Kant, Liselotte J. C. Rotteveel, Suzanna G.M. Frints, J.R. Hof, Robert J. Stokroos, Els K. Vanhoutte, R.J.C. Admiraal, Ilse Feenstra, Hannie Kremer, Henricus P. M. Kunst, Ronald J. E. Pennings, Helger G. Yntema, A.J. van Essen, Rolien H. Free, J.S. Klein-Wassink

    出版 2018
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