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	2621.	Marfanoid habitus is a nonspecific feature of Perrault syndrome. [electronic resource] by Zerkaoui, Maria Demain, Leigh A M Cherkaoui Jaouad, Imane Ratbi, Ilham Amjoud, Karima Urquhart, Jill E O'Sullivan, James Newman, William G Sefiani, Abdelaziz Producer: 20180705 In: Clinical dysmorphology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2622.	"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing. [electronic resource] by Skinner, Debra Roche, Myra I Weck, Karen E Raspberry, Kelly A Foreman, A Katherine M Strande, Natasha T Berg, Jonathan S Evans, James P Henderson, Gail E Producer: 20180926 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2623.	None [electronic resource] by Sakthikumar, Sharadha Elvers, Ingegerd Kim, Jaegil Arendt, Maja L Thomas, Rachael Turner-Maier, Jason Swofford, Ross Johnson, Jeremy Schumacher, Steven E Alföldi, Jessica Axelsson, Erik Couto, C Guillermo Kisseberth, William C Pettersson, Mats E Getz, Gad Meadows, Jennifer R S Modiano, Jaime F Breen, Matthew Kierczak, Marcin Forsberg-Nilsson, Karin Marinescu, Voichita D Lindblad-Toh, Kerstin Producer: 20190805 In: Cancer research vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2624.	Whole-Exome Sequencing of Acquired Nevi Identifies Mechanisms for Development and Maintenance of Benign Neoplasms. [electronic resource] by Stark, Mitchell S Tan, Jean-Marie Tom, Lisa Jagirdar, Kasturee Lambie, Duncan Schaider, Helmut Soyer, H Peter Sturm, Richard A Producer: 20190522 In: The Journal of investigative dermatology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2625.	Transcriptome Sequencing Reveals Candidate NF-κB Target Genes Involved in Repeated Cocaine Administration. [electronic resource] by Wang, Yan Teng, Huajing Sapozhnikov, Daniel M Du, Quansheng Zhao, Mei Producer: 20190717 In: The international journal of neuropsychopharmacology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2626.	Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians. [electronic resource] by Tang, Dave Fakiola, Michaela Syn, Genevieve Anderson, Denise Cordell, Heather J Scaman, Elizabeth S H Davis, Elizabeth Miles, Simon J McLeay, Toby Jamieson, Sarra E Lassmann, Timo Blackwell, Jenefer M Producer: 20191015 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2627.	A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family. [electronic resource] by Abdelrahman, Hanadi A Al-Shamsi, Aisha John, Anne Hertecant, Jozef Lootah, Ali Ali, Bassam R Al-Gazali, Lihadh Producer: 20190911 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)
	2628.	Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. [electronic resource] by Caylor, R C Grote, L Thiffault, I Farrow, E G Willig, L Soden, S Amudhavalli, S M Nopper, A J Horii, K A Fleming, E Jenkins, J Welsh, H Ilyas, M Engleman, K Abdelmoity, A Saunders, C J Producer: 20190926 In: Neurogenetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2629.	De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. [electronic resource] by Tran Mau-Them, F Guibaud, L Duplomb, L Keren, B Lindstrom, K Marey, I Mochel, F van den Boogaard, M J Oegema, R Nava, C Masurel, A Jouan, T Jansen, F E Au, M Chen, Agnes H Cho, M Duffourd, Y Lozier, E Konovalov, F Sharkov, A Korostelev, S Urteaga, B Dickson, P Vera, M Martínez-Agosto, Julián A Begemann, A Zweier, M Schmitt-Mechelke, T Rauch, A Philippe, C van Gassen, K Nelson, S Graham, J M Friedman, J Faivre, L Lin, H J Thauvin-Robinet, C Vitobello, A Producer: 20190618 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2630.	Genetics of Dilated Cardiomyopathy. [electronic resource] by Fu, Yiwen Eisen, Howard J Producer: 20191021 In: Current cardiology reports vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2631.	Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism. [electronic resource] by Kotan, Leman D Isik, Emregul Turan, Ihsan Mengen, Eda Akkus, Gamze Tastan, Mehmet Gurbuz, Fatih Yuksel, Bilgin Topaloglu, A Kemal Producer: 20200330 In: Clinical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2632.	Neutrophils escort circulating tumour cells to enable cell cycle progression. [electronic resource] by Szczerba, Barbara Maria Castro-Giner, Francesc Vetter, Marcus Krol, Ilona Gkountela, Sofia Landin, Julia Scheidmann, Manuel C Donato, Cinzia Scherrer, Ramona Singer, Jochen Beisel, Christian Kurzeder, Christian Heinzelmann-Schwarz, Viola Rochlitz, Christoph Weber, Walter Paul Beerenwinkel, Niko Aceto, Nicola Producer: 20190812 In: Nature vol. 566 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2633.	An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3. [electronic resource] by Scheuerle, Angela E Sweed, Nathan T Timmons, Charles F Smith, Erica D Alcaraz, Wendy A Shinde, Deepali N 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)
	2634.	An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. [electronic resource] by Amari, Shoichiro Tsukamoto, Keiko Ishiguro, Akira Yanagi, Kumiko Kaname, Tadashi Ito, Yushi Producer: 20201019 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2635.	Paired whole exome and transcriptome analyses for the Immunogenomic changes during concurrent chemoradiotherapy in esophageal squamous cell carcinoma. [electronic resource] by Park, Sehhoon Joung, Je-Gun Min, Yang Won Nam, Jae-Yong Ryu, Daeun Oh, Dongryul Park, Woong-Yang Lee, Se-Hoon Choi, Yoon La Ahn, Jin Seok Ahn, Myung-Ju Park, Keunchil Sun, Jong-Mu Producer: 20200707 In: Journal for immunotherapy of cancer vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2636.	None [electronic resource] by Hubert, Laurence Cannata Serio, Magda Villoing-Gaudé, Laure Boddaert, Nathalie Kaminska, Anna Rio, Marlène Lyonnet, Stanislas Munnich, Arnold Poirier, Karine Simons, Matias Besmond, Claude Producer: 20210202 In: Journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2637.	Aberrant ERG expression associates with downregulation of miR-4638-5p and selected genomic alterations in a subset of diffuse large B-cell lymphoma. [electronic resource] by Zhang, Shanxiang Wang, Lin Cheng, Liang Producer: 20200128 In: Molecular carcinogenesis vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2638.	A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. [electronic resource] by Giuffrida, Maria G Mastromoro, Gioia Guida, Valentina Truglio, Mauro Fabbretti, Maria Torres, Barbara Mazza, Tommaso De Luca, Alessandro Roggini, Mario Bernardini, Laura Pizzuti, Antonio Producer: 20210104 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2639.	The impact of RNA extraction method on accurate RNA sequencing from formalin-fixed paraffin-embedded tissues. [electronic resource] by Marczyk, Michal Fu, Chunxiao Lau, Rosanna Du, Lili Trevarton, Alexander J Sinn, Bruno V Gould, Rebekah E Pusztai, Lajos Hatzis, Christos Symmans, W Fraser Producer: 20200402 In: BMC cancer vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2640.	Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes. [electronic resource] by Lee, Jin Sook Yoo, Taekyeong Lee, Moses Lee, Youngha Jeon, Eunyoung Kim, Soo Yeon Lim, Byung Chan Kim, Ki Joong Choi, Murim Chae, Jong-Hee Producer: 20210603 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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