Torthaí cuardaigh - Anne M.M. Oonk
- 1 - 6 toradh as 6 á dtaispeáint
-
1
Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness de réir 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
Foilsithe / Cruthaithe 2011Artigo -
2
Triple-negative breast cancer: BRCAness and concordance of clinical features with BRCA1-mutation carriers de réir 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
Foilsithe / Cruthaithe 2013Artigo -
3
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 de réir 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
Foilsithe / Cruthaithe 2014Artigo -
4
Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment de réir 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
Foilsithe / Cruthaithe 2012Artigo -
5
Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss de réir 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
Foilsithe / Cruthaithe 2012Artigo -
6
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse de réir 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
Foilsithe / Cruthaithe 2018Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Gene
Genetics
Medicine
Mutation
Audiology
Hearing loss
Anatomy
Breast cancer
Cancer
Cancer research
Cochlea
Exon
Inner ear
Locus (genetics)
Missense mutation
Oncology
Sensorineural hearing loss
Triple-negative breast cancer
Audiogram
Bioinformatics
Candidate gene
Comparative genomic hybridization
Concordance
DNA microarray
Exome sequencing
Frameshift mutation
Gene expression
Genome
Germline