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	3281.	Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. [electronic resource] by Dunn, Kara Pasternak, Brad Kelsen, Judith R Sullivan, Kathleen E Dawany, Noor Wright, Benjamin L Producer: 20190111 In: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3282.	Distal chromosome 16p11.2 duplications containing [electronic resource] by Sadler, Brooke Haller, Gabe Antunes, Lilian Bledsoe, Xavier Morcuende, Jose Giampietro, Philip Raggio, Cathleen Miller, Nancy Kidane, Yared Wise, Carol A Amarillo, Ina Walton, Nephi Seeley, Mark Johnson, Darren Jenkins, Conner Jenkins, Troy Oetjens, Matthew Tong, R Spencer Druley, Todd E Dobbs, Matthew B Gurnett, Christina A Producer: 20200603 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3283.	De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. [electronic resource] by Platzer, Konrad Sticht, Heinrich Edwards, Stacey L Allen, William Angione, Kaitlin M Bonati, Maria T Brasington, Campbell Cho, Megan T Demmer, Laurie A Falik-Zaccai, Tzipora Gamble, Candace N Hellenbroich, Yorck Iascone, Maria Kok, Fernando Mahida, Sonal Mandel, Hanna Marquardt, Thorsten McWalter, Kirsty Panis, Bianca Pepler, Alexander Pinz, Hailey Ramos, Luiza Shinde, Deepali N Smith-Hicks, Constance Stegmann, Alexander P A Stöbe, Petra Stumpel, Constance T R M Wilson, Carolyn Lemke, Johannes R Di Donato, Nataliya Miller, Kenneth G Jamra, Rami 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)
	3284.	Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy. [electronic resource] by Pasutto, Francesca Ekici, Arif Reis, André Kremers, Jan Huchzermeyer, Cord Producer: 20190412 In: Ophthalmic genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3285.	De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. [electronic resource] by Sega, Annalisa G Mis, Emily K Lindstrom, Kristin Mercimek-Andrews, Saadet Ji, Weizhen Cho, Megan T Juusola, Jane Konstantino, Monica Jeffries, Lauren Khokha, Mustafa K Lakhani, Saquib Ali Producer: 20200518 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3286.	A targeted sequencing approach to find novel pathogenic genes associated with sporadic aortic dissection. [electronic resource] by Li, Zongzhe Zhou, Chengming Tan, Lun Chen, Peng Cao, Yanyan Li, Xianqing Yan, Jiangtao Zeng, Hesong Wang, Dao-Wu Wang, Dao-Wen Producer: 20190920 In: Science China. Life sciences vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3287.	The profile of IL-4, IL-5, IL-10 and GATA3 in patients with LRBA deficiency and CVID with no known monogenic disease: Association with disease severity. [electronic resource] by Azizi, G Bagheri, Y Yazdani, R Zaki-Dizaji, M Jamee, M Jadidi-Niaragh, F Kamali, A N Abolhassani, H Aghamohammadi, A Producer: 20190625 In: Allergologia et immunopathologia vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3288.	Whole-exome sequencing identifies key mutated genes in T790M wildtype/cMET-unamplified lung adenocarcinoma with acquired resistance to first-generation EGFR tyrosine kinase inhibitors. [electronic resource] by Li, Chenguang Liu, Hailin Zhang, Bin Gong, Liqun Su, Yanjun Zhang, Zhenfa Wang, Changli Producer: 20180612 In: Journal of cancer research and clinical oncology vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3289.	GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. [electronic resource] by Öncü-Öner, Tülay Ünalp, Aycan Porsuk-Doru, İlknur Ağılkaya, Sinem Güleryüz, Handan Saraç, Aydan Ergüner, Bekir Yüksel, Bayram Hız-Kurul, Semra Cingöz, Sultan Producer: 20190225 In: The Turkish journal of pediatrics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3290.	Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia. [electronic resource] by Wakil, Salma M Alhissi, Safa Al Dossari, Haya Alqahtani, Ayesha Shibin, Sherin Melaiki, Brahim T Finsterer, Josef Al-Hashem, Amal Bohlega, Saeed Alazami, Anas M Producer: 20191202 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3291.	Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome. [electronic resource] by Georgeson, Peter Walsh, Michael D Clendenning, Mark Daneshvar, Simin Pope, Bernard J Mahmood, Khalid Joo, Jihoon E Jayasekara, Harindra Jenkins, Mark A Winship, Ingrid M Buchanan, Daniel D Producer: 20200715 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3292.	Mutations in [electronic resource] by Timberlake, Andrew T Jin, Sheng Chih Nelson-Williams, Carol Wu, Robin Furey, Charuta G Islam, Barira Haider, Shozeb Loring, Erin Galm, Amy Steinbacher, Derek M Larysz, Dawid Staffenberg, David A Flores, Roberto L Rodriguez, Eduardo D Boggon, Titus J Persing, John A Lifton, Richard P Producer: 20200330 In: Proceedings of the National Academy of Sciences of the United States of America vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3293.	Rare and common variant discovery in complex disease: the IBD case study. [electronic resource] by Venkataraman, Guhan R Rivas, Manuel A Producer: 20200625 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3294.	A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. [electronic resource] by Gelfman, Sahar Dugger, Sarah de Araujo Martins Moreno, Cristiane Ren, Zhong Wolock, Charles J Shneider, Neil A Phatnani, Hemali Cirulli, Elizabeth T Lasseigne, Brittany N Harris, Tim Maniatis, Tom Rouleau, Guy A Brown, Robert H Gitler, Aaron D Myers, Richard M Petrovski, Slavé Allen, Andrew Goldstein, David B Harms, Matthew B Producer: 20191127 In: Genome research vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3295.	ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. [electronic resource] by Handley, Mark T Reddy, Kaalak Wills, Jimi Rosser, Elisabeth Kamath, Archith Halachev, Mihail Falkous, Gavin Williams, Denise Cox, Phillip Meynert, Alison Raymond, Eleanor S Morrison, Harris Brown, Stephen Allan, Emma Aligianis, Irene Jackson, Andrew P Ramsahoye, Bernard H von Kriegsheim, Alex Taylor, Robert W Finch, Andrew J FitzPatrick, David R Producer: 20190916 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3296.	Clinicopathological and mutational analyses of colorectal cancer with mutations in the POLE gene. [electronic resource] by Hino, Hitoshi Shiomi, Akio Kusuhara, Masatoshi Kagawa, Hiroyasu Yamakawa, Yushi Hatakeyama, Keiichi Kawabata, Takanori Oishi, Takuma Urakami, Kenichi Nagashima, Takeshi Kinugasa, Yusuke Yamaguchi, Ken Producer: 20200814 In: Cancer medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3297.	Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families. [electronic resource] by Akbar, Abida Prince, Claire Payne, Chloe Fasham, James Ahmad, Wasim Baple, Emma L Crosby, Andrew H Harlalka, Gaurav V Gul, Asma Producer: 20191202 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3298.	A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. [electronic resource] by Karsak, Meliha Glebov, Konstantin Scheffold, Marina Bajaj, Thomas Kawalia, Amit Karaca, Ilker Rading, Sebastian Kornhuber, Johannes Peters, Oliver Diez-Fairen, Monica Frölich, Lutz Hüll, Michael Wiltfang, Jens Scherer, Martin Riedel-Heller, Steffi Schneider, Anja Heneka, Michael T Fliessbach, Klaus Sharaf, Ahmed Thiele, Holger Lennarz, Martina Jessen, Frank Maier, Wolfgang Kubisch, Christian Ignatova, Zoya Nürnberg, Peter Pastor, Pau Walter, Jochen Ramirez, Alfredo Producer: 20210519 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3299.	Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach. [electronic resource] by Córdoba, Marta Rodriguez-Quiroga, Sergio Alejandro Vega, Patricia Analía Salinas, Valeria Perez-Maturo, Josefina Amartino, Hernán Vásquez-Dusefante, Cecilia Medina, Nancy González-Morón, Dolores Kauffman, Marcelo Andrés Producer: 20180313 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3300.	Exome and genome sequencing in reproductive medicine. [electronic resource] by Normand, Elizabeth A Alaimo, Joseph T Van den Veyver, Ignatia B Producer: 20181029 In: Fertility and sterility vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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