Kết quả tìm kiếm - Hehir-Kwa, Jayne Y

Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology Bằng van Belzen, Ianthe A. E. M., Schönhuth, Alexander, Kemmeren, Patrick, Hehir-Kwa, Jayne Y.

lấy văn bản lấy văn bản lấy văn bản

Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on... Bằng Hehir-Kwa, Jayne Y., Egmont-Petersen, Michael, Janssen, Irene M., Smeets, Dominique, van Kessel, Ad Geurts, Veltman, Joris A.

lấy văn bản lấy văn bản lấy văn bản

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models Bằng Webber, Caleb, Hehir-Kwa, Jayne Y., Nguyen, Duc-Quang, de Vries, Bert B. A., Veltman, Joris A., Ponting, Chris P.

lấy văn bản lấy văn bản lấy văn bản

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation Bằng Hehir-Kwa, Jayne Y., Wieskamp, Nienke, Webber, Caleb, Pfundt, Rolph, Brunner, Han G., Gilissen, Christian, de Vries, Bert B. A., Ponting, Chris P., Veltman, Joris A.

lấy văn bản lấy văn bản lấy văn bản

LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions Bằng Lybæk, Helle, Robson, Michael, de Leeuw, Nicole, Hehir‐Kwa, Jayne Y., Jeffries, Aaron, Haukanes, Bjørn Ivar, Berland, Siren, de Bruijn, Diederik, Mundlos, Stefan, Spielmann, Malte, Houge, Gunnar

lấy văn bản lấy văn bản lấy văn bản

Mobster: accurate detection of mobile element insertions in next generation sequencing data Bằng Thung, Djie Tjwan, de Ligt, Joep, Vissers, Lisenka EM, Steehouwer, Marloes, Kroon, Mark, de Vries, Petra, Slagboom, Eline P, Ye, Kai, Veltman, Joris A, Hehir-Kwa, Jayne Y

lấy văn bản lấy văn bản lấy văn bản

Clinical interpretation of CNVs with cross-species phenotype data Bằng Köhler, Sebastian, Schoeneberg, Uwe, Czeschik, Johanna Christina, Doelken, Sandra C, Hehir-Kwa, Jayne Y, Ibn-Salem, Jonas, Mungall, Christopher J, Smedley, Damian, Haendel, Melissa A, Robinson, Peter N

lấy văn bản lấy văn bản lấy văn bản

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome Bằng Dingemans, Alexander J. M., Stremmelaar, Diante E., van der Donk, Roos, Vissers, Lisenka E. L. M., Koolen, David A., Rump, Patrick, Hehir-Kwa, Jayne Y., de Vries, Bert B. A.

lấy văn bản lấy văn bản lấy văn bản

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing Bằng de Ligt, Joep, Boone, Philip M., Pfundt, Rolph, Vissers, Lisenka E.L.M., de Leeuw, Nicole, Shaw, Christine, Brunner, Han G., Lupski, James R., Veltman, Joris A., Hehir-Kwa, Jayne Y.

lấy văn bản lấy văn bản lấy văn bản

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) Bằng Claustres, Mireille, Kožich, Viktor, Dequeker, Els, Fowler, Brain, Hehir-Kwa, Jayne Y, Miller, Konstantin, Oosterwijk, Cor, Peterlin, Borut, van Ravenswaaij-Arts, Conny, Zimmermann, Uwe, Zuffardi, Orsetta, Hastings, Ros J, Barton, David E

lấy văn bản lấy văn bản lấy văn bản

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes Bằng Wills, Edgar S, Cnossen, Wybrich R, Veltman, Joris A, Woestenenk, Rob, Steehouwer, Marloes, Salomon, Jody, te Morsche, René H M, Huch, Meritxell, Hehir-Kwa, Jayne Y, Banning, Martijn J, Pfundt, Rolph, Roepman, Ronald, Hoischen, Alexander, Drenth, Joost P H

lấy văn bản lấy văn bản lấy văn bản

Towards a European consensus for reporting incidental findings during clinical NGS testing Bằng Hehir-Kwa, Jayne Y, Claustres, Mireille, Hastings, Ros J, van Ravenswaaij-Arts, Conny, Christenhusz, Gabrielle, Genuardi, Maurizio, Melegh, Béla, Cambon-Thomsen, Anne, Patsalis, Philippos, Vermeesch, Joris, Cornel, Martina C, Searle, Beverly, Palotie, Aarno, Capoluongo, Ettore, Peterlin, Borut, Estivill, Xavier, Robinson, Peter N

lấy văn bản lấy văn bản lấy văn bản

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders Bằng van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.

lấy văn bản lấy văn bản lấy văn bản

Homozygosity mapping in outbred families with mental retardation Bằng Schuurs-Hoeijmakers, Janneke H M, Hehir-Kwa, Jayne Y, Pfundt, Rolph, van Bon, Bregje W M, de Leeuw, Nicole, Kleefstra, Tjitske, Willemsen, Michèl A, van Kessel, Ad Geurts, Brunner, Han G, Veltman, Joris A, van Bokhoven, Hans, de Brouwer, Arjan P M, de Vries, Bert B A

lấy văn bản lấy văn bản lấy văn bản

Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources Bằng de Leeuw, Nicole, Dijkhuizen, Trijnie, Hehir-Kwa, Jayne Y., Carter, Nigel P., Feuk, Lars, Firth, Helen V., Kuhn, Robert M., Ledbetter, David H., Martin, Christa Lese, van Ravenswaaij-Arts, Conny M. A., Scherer, Steven W., Shams, Soheil, Van Vooren, Steven, Sijmons, Rolf, Swertz, Morris, Hastings, Ros

lấy văn bản lấy văn bản

Clonal Relationship Between Lichen Sclerosus, Differentiated Vulvar Intra-epithelial Neoplasia and Non HPV-related Vulvar Squamous Cell Carcinoma Bằng POUWER, ANNE-FLOOR W, VAN DEN EINDEN, LOES C.G, VAN DER LINDEN, MICHELLE, HEHIR-KWA, JAYNE Y, YU, JIANGYAN, HENDRIKS, KOEN M, KAMPING, EVELINE J, EIJKELENBOOM, ASTRID, MASSUGER, LEON F.A.G, BULTEN, JOHAN, VAN TILBORG, ANGELA A.G, DE HULLU, JOANNE A, KUIPER, ROLAND P

lấy văn bản lấy văn bản lấy văn bản

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients Bằng Zhang, Junxiao, Wang, Xiaoyan, de Voer, Richarda M, Hehir-Kwa, Jayne Y., Kamping, Eveline J, Weren, Robbert D.A., Nelen, Marcel, Hoischen, Alexander, Ligtenberg, Marjolijn J.L., Hoogerbrugge, Nicoline, Yang, Xiangling, Yang, Zihuan, Fan, Xinjuan, Wang, Lei, Liu, Huanliang, Wang, Jianping, Kuiper, Roland P., van Kessel, Ad Geurts

lấy văn bản lấy văn bản lấy văn bản

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors Bằng Sabatella, Mariangela, Mantere, Tuomo, Waanders, Esmé, Neveling, Kornelia, Mensenkamp, Arjen R, van Dijk, Freerk, Hehir‐Kwa, Jayne Y, Derks, Ronnie, Kwint, Michael, O'Gorman, Luke, Tropa Martins, Madalena, Gidding, Corrie EM, Lequin, Maarten H, Küsters, Benno, Wesseling, Pieter, Nelen, Marcel, Biegel, Jacklyn A, Hoischen, Alexander, Jongmans, Marjolijn C, Kuiper, Roland P

lấy văn bản lấy văn bản lấy văn bản

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita Bằng Jongmans, Marjolijn C.J., Verwiel, Eugene T.P., Heijdra, Yvonne, Vulliamy, Tom, Kamping, Eveline J., Hehir-Kwa, Jayne Y., Bongers, Ernie M.H.F., Pfundt, Rolph, van Emst, Liesbeth, van Leeuwen, Frank N., van Gassen, Koen L.I., Geurts van Kessel, Ad, Dokal, Inderjeet, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.

lấy văn bản lấy văn bản lấy văn bản

Improved Gene Fusion Detection in Childhood Cancer Diagnostics Using RNA Sequencing Bằng Hehir-Kwa, Jayne Y., Koudijs, Marco J., Verwiel, Eugene T. P., Kester, Lennart A., van Tuil, Marc, Strengman, Eric, Buijs, Arjan, Kranendonk, Mariëtte E. G., Hiemcke-Jiwa, Laura S., de Haas, Valerie, van de Geer, Ellen, de Leng, Wendy, van der Lugt, Jasper, Lijnzaad, Philip, Holstege, Frank C. P., Kemmeren, Patrick, Tops, Bastiaan B. J.

lấy văn bản lấy văn bản lấy văn bản