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	3061.	Homozygous DMRT2 variant associates with severe rib malformations in a newborn. [electronic resource] by Bouman, Arjan Waisfisz, Quinten Admiraal, Jop van de Loo, Moniek van Rijn, Rick R Micha, Dimitra Oostra, Roelof-Jan Mathijssen, Inge B Producer: 20190520 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3062.	The RNA-seq transcriptomic analysis reveals genes mediating salt tolerance through rapid triggering of ion transporters in a mutant barley. [electronic resource] by Yousefirad, Sareh Soltanloo, Hassan Ramezanpour, Seyedeh Sanaz Zaynali Nezhad, Khalil Shariati, Vahid Producer: 20200623 In: PloS one vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3063.	Transcriptional responses of [electronic resource] by Alves, Rosana Kastora, Stavroula L Gomes-Gonçalves, Alexandra Azevedo, Nuno Rodrigues, Célia F Silva, Sónia Demuyser, Liesbeth Van Dijck, Patrick Casal, Margarida Brown, Alistair J P Henriques, Mariana Paiva, Sandra Producer: 20210323 In: NPJ biofilms and microbiomes vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3064.	Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community. [electronic resource] by Simon, Amos J Golan, Adi Cohen Lev, Atar Stauber, Tali Barel, Ortal Somekh, Ido Klein, Christoph AbuZaitun, Omar Eyal, Eran Kol, Nitzan Unal, Ekrem Amariglio, Ninette Rechavi, Gideon Somech, Raz Producer: 20201023 In: Clinical immunology (Orlando, Fla.) vol. 214 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3065.	Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. [electronic resource] by Gruber, Conor Martin-Fernandez, Marta Ailal, Fatima Qiu, Xueer Taft, Justin Altman, Jennie Rosain, Jérémie Buta, Sofija Bousfiha, Aziz Casanova, Jean-Laurent Bustamante, Jacinta Bogunovic, Dusan Producer: 20201224 In: The Journal of experimental medicine vol. 217 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3066.	Genomic determinants of long-term cardiometabolic complications in childhood acute lymphoblastic leukemia survivors. [electronic resource] by England, Jade Drouin, Simon Beaulieu, Patrick St-Onge, Pascal Krajinovic, Maja Laverdière, Caroline Levy, Emile Marcil, Valérie Sinnett, Daniel Producer: 20180709 In: BMC cancer vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3067.	A homozygous [electronic resource] by Fouquet, Baptiste Pawlikowska, Patrycja Caburet, Sandrine Guigon, Celine Mäkinen, Marika Tanner, Laura Hietala, Marja Urbanska, Kaja Bellutti, Laura Legois, Bérangère Bessieres, Bettina Gougeon, Alain Benachi, Alexandra Livera, Gabriel Rosselli, Filippo Veitia, Reiner A Misrahi, Micheline Producer: 20180914 In: eLife vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3068.	Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity. [electronic resource] by Udagawa, Chihiro Nakamura, Hiromi Ohnishi, Hiroshi Tamura, Kenji Shimoi, Tatsunori Yoshida, Masayuki Yoshida, Teruhiko Totoki, Yasushi Shibata, Tatsuhiro Zembutsu, Hitoshi Producer: 20180209 In: Cancer science vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3069.	Genomics-Driven Precision Medicine for Advanced Pancreatic Cancer: Early Results from the COMPASS Trial. [electronic resource] by Aung, Kyaw L Fischer, Sandra E Denroche, Robert E Jang, Gun-Ho Dodd, Anna Creighton, Sean Southwood, Bernadette Liang, Sheng-Ben Chadwick, Dianne Zhang, Amy O'Kane, Grainne M Albaba, Hamzeh Moura, Shari Grant, Robert C Miller, Jessica K Mbabaali, Faridah Pasternack, Danielle Lungu, Ilinca M Bartlett, John M S Ghai, Sangeet Lemire, Mathieu Holter, Spring Connor, Ashton A Moffitt, Richard A Yeh, Jen Jen Timms, Lee Krzyzanowski, Paul M Dhani, Neesha Hedley, David Notta, Faiyaz Wilson, Julie M Moore, Malcolm J Gallinger, Steven Knox, Jennifer J Producer: 20190930 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3070.	Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing. [electronic resource] by Mehri, Maghsood Zarin, Maryam Ardalani, Fariba Najmabadi, Hossein Azarkeivan, Azita Neishabury, Maryam Producer: 20190321 In: Blood cells, molecules & diseases vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3071.	Mutational burden of resectable pancreatic cancer, as determined by whole transcriptome and whole exome sequencing, predicts a poor prognosis. [electronic resource] by Grassi, Elisa Durante, Sandra Astolfi, Annalisa Tarantino, Giuseppe Indio, Valentina Freier, Eva Vecchiarelli, Silvia Ricci, Claudio Casadei, Riccardo Formica, Francesca Filippini, Daria Comito, Francesca Serra, Carla Santini, Donatella D' Errico, Antonietta Minni, Francesco Biasco, Guido Di Marco, Mariacristina Producer: 20181009 In: International journal of oncology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3072.	Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing. [electronic resource] by Nafisinia, Michael Menezes, Minal Juliet Gold, Wendy Anne Riley, Lisa Hatch, Joshua Cardinal, John Coman, David Christodoulou, John Producer: 20190205 In: Molecular genetics and metabolism vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3073.	Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. [electronic resource] by Riera, Marina Wert, Ana Nieto, Isabel Pomares, Esther Producer: 20180119 In: Molecular genetics & genomic medicine vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3074.	Tumor diversity and evolution revealed through RADseq. [electronic resource] by Perry, Elizabeth B Makohon-Moore, Alvin Zheng, Caihong Kaufman, Charles K Cai, Jun Iacobuzio-Donahue, Christine A White, Richard M Producer: 20180406 In: Oncotarget vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3075.	Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. [electronic resource] by Sajan, Samin A Jhangiani, Shalini N Muzny, Donna M Gibbs, Richard A Lupski, James R Glaze, Daniel G Kaufmann, Walter E Skinner, Steven A Annese, Fran Friez, Michael J Lane, Jane Percy, Alan K Neul, Jeffrey L Producer: 20171207 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3076.	Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe. [electronic resource] by Wormser, Ohad Gradstein, Libe Kadar, Einat Yogev, Yuval Perez, Yonatan Mashkit, Elena Elbedour, Khalil Drabkin, Max Markus, Barak Kadir, Rotem Halperin, Daniel Khalaila, Soltan Levy, Jaime Lifshitz, Tova Manor, Esther Birk, Ohad S Producer: 20191029 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3077.	Combination of flow cytometry and functional imaging for monitoring of residual disease in myeloma. [electronic resource] by Rasche, L Alapat, D Kumar, M Gershner, G McDonald, J Wardell, C P Samant, R Van Hemert, R Epstein, J Williams, A F Thanendrarajan, S Schinke, C Bauer, M Ashby, C Tytarenko, R G van Rhee, F Walker, B A Zangari, M Barlogie, B Davies, F E Morgan, G J Weinhold, N Producer: 20191112 In: Leukemia vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3078.	TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. [electronic resource] by Dorval, Guillaume Kuzmuk, Valeryia Gribouval, Olivier Welsh, Gavin I Bierzynska, Agnieszka Schmitt, Alain Miserey-Lenkei, Stéphanie Koziell, Ania Haq, Shuman Benmerah, Alexandre Mollet, Géraldine Boyer, Olivia Saleem, Moin A Antignac, Corinne Producer: 20191119 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3079.	A Novel Rare Missense Variation of the [electronic resource] by Frade-Proud'Hon-Clerc, Sara Smol, Thomas Frenois, Frédéric Sand, Olivier Vaillant, Emmanuel Dhennin, Véronique Bonnefond, Amélie Froguel, Philippe Fumery, Mathurin Guillon-Dellac, Nathalie Gower-Rousseau, Corinne Vasseur, Francis Producer: 20190529 In: International journal of molecular sciences vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3080.	Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency. [electronic resource] by Vantroys, Elise Smet, Joél Vanlander, Arnaud V Vergult, Sarah De Bruyne, Ruth Roels, Frank Stepman, Hedwig Roeyers, Herbert Menten, Björn Van Coster, Rudy Producer: 20190415 In: Orphanet journal of rare diseases vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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