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	3161.	SNPitty: An Intuitive Web Application for Interactive B-Allele Frequency and Copy Number Visualization of Next-Generation Sequencing Data. [electronic resource] by van Riet, Job Krol, Niels M G Atmodimedjo, Peggy N Brosens, Erwin van IJcken, Wilfred F J Jansen, Maurice P H M Martens, John W M Looijenga, Leendert H Jenster, Guido Dubbink, Hendrikus J Dinjens, Winand N M van de Werken, Harmen J G Producer: 20191021 In: The Journal of molecular diagnostics : JMD vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3162.	Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death. [electronic resource] by Huang, Hao Chen, Ya-Qin Fan, Liang-Liang Guo, Shuai Li, Jing-Jing Jin, Jie-Yuan Xiang, Rong Producer: 20190429 In: Journal of cellular and molecular medicine vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3163.	Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. [electronic resource] by Rohanizadegan, Mersedeh Abdo, Sara M O'Donnell-Luria, Anne Mihalek, Ivana Chen, Peggy Sanders, Marilyn Leeman, Kristen Cho, Megan Hung, Christina Bodamer, Olaf Producer: 20180101 In: Cold Spring Harbor molecular case studies vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3164.	None [electronic resource] by Nayyar, Naema White, Michael D Gill, Corey M Lastrapes, Matthew Bertalan, Mia Kaplan, Alexander D'Andrea, Megan R Bihun, Ivanna Kaneb, Andrew Dietrich, Jorg Ferry, Judith A Martinez-Lage, Maria Giobbie-Hurder, Anita Borger, Darrell R Rodriguez, Fausto J Frosch, Matthew P Batchelor, Emily Hoang, Kaitlin Kuter, Benjamin Fortin, Sarah Holdhoff, Matthias Cahill, Daniel P Carter, Scott Brastianos, Priscilla K Batchelor, Tracy T Producer: 20200203 In: Blood advances vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3165.	EAP1 regulation of GnRH promoter activity is important for human pubertal timing. [electronic resource] by Mancini, Alessandra Howard, Sasha R Cabrera, Claudia P Barnes, Michael R David, Alessia Wehkalampi, Karoliina Heger, Sabine Lomniczi, Alejandro Guasti, Leonardo Ojeda, Sergio R Dunkel, Leo Producer: 20190701 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3166.	10q23.31 microduplication encompassing [electronic resource] by Oliveira, Danyllo Leal, Gabriela Ferraz Sertié, Andréa L Caires, Luiz Carlos Goulart, Ernesto Musso, Camila Manso Oliveira, João Ricardo Mendes de Krepischi, Ana Cristina Victorino Vianna-Morgante, Angela Maria Zatz, Mayana 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)
	3167.	Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. [electronic resource] by van der Schoot, Vyne de Munnik, Sonja Venselaar, Hanka Elting, Mariet Mancini, Grazia M S Ravenswaaij-Arts, Conny M A Anderlid, Britt-Marie Brunner, Han G Stevens, Servi J C Producer: 20181017 In: Molecular genetics & genomic medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3168.	Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES). [electronic resource] by Leung, Gordon K C Mak, Christopher C Y Fung, Jasmine L F Wong, Wilfred H S Tsang, Mandy H Y Yu, Mullin H C Pei, Steven L C Yeung, K S Mok, Gary T K Lee, C P Hui, Amelia P W Tang, Mary H Y Chan, Kelvin Y K Liu, Anthony P Y Yang, Wanling Sham, P C Kan, Anita S Y Chung, Brian H Y Producer: 20190725 In: BMC medical genomics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3169.	Whole-exome sequencing suggests multiallelic inheritance for childhood-onset Ménière's disease. [electronic resource] by Skarp, Sini Kanervo, Laura Kotimäki, Jouko Sorri, Martti Männikkö, Minna Hietikko, Elina Producer: 20200630 In: Annals of human genetics vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3170.	Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). [electronic resource] by Rahikkala, Elisa Myllykoski, Matti Hinttala, Reetta Vieira, Päivi Nayebzadeh, Naemeh Weiss, Simone Plomp, Astrid S Bittner, Reginald E Kurki, Mitja I Kuismin, Outi Lewis, Andrea M Väisänen, Marja-Leena Kokkonen, Hannaleena Westermann, Jonne Bernert, Günther Tuominen, Hannu Palotie, Aarno Aaltonen, Lauri Yang, Yaping Potocki, Lorraine Moilanen, Jukka van Koningsbruggen, Silvana Wang, Xia Schmidt, Wolfgang M Koivunen, Peppi Uusimaa, Johanna Producer: 20200317 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)
	3171.	Multifocal primary neuroblastoma tumor heterogeneity in siblings with co-occurring PHOX2B and NF1 genetic aberrations. [electronic resource] by Rybinski, Brad Wolinsky, Tamar Brohl, Andrew Moerdler, Scott Reed, Damon R Ewart, Michelle Weiser, Daniel Producer: 20200416 In: Genes, chromosomes & cancer vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3172.	Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing. [electronic resource] by Günthner, Roman Wagner, Matias Thurm, Tobias Ponsel, Sabine Höfele, Julia Lange-Sperandio, Bärbel Producer: 20180322 In: Gene vol. 649 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3173.	Expanding the clinical and genetic spectra of NKX6-2-related disorder. [electronic resource] by Baldi, C Bertoli-Avella, A M Al-Sannaa, N Alfadhel, M Al-Thihli, K Alameer, S Elmonairy, A A Al Shamsi, A M Abdelrahman, H A Al-Gazali, L Shawli, A Al-Hakami, F Yavuz, H Kandaswamy, K K Rolfs, A Brandau, O Bauer, P Producer: 20190925 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3174.	Three novel mutations in 20 patients with hereditary spastic paraparesis. [electronic resource] by Duz, Mehmet Bugrahan Dasdemir, Selcuk Kalayci Yigin, Aysel Akalin, Mehmet Ali Seven, Mehmet Producer: 20190403 In: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3175.	A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease. [electronic resource] by Hartl, Daniela May, Patrick Gu, Wei Mayhaus, Manuel Pichler, Sabrina Spaniol, Christian Glaab, Enrico Bobbili, Dheeraj Reddy Antony, Paul Koegelsberger, Sandra Kurz, Alexander Grimmer, Timo Morgan, Kevin Vardarajan, Badri N Reitz, Christiane Hardy, John Bras, Jose Guerreiro, Rita Balling, Rudi Schneider, Jochen G Riemenschneider, Matthias Producer: 20210114 In: Molecular psychiatry vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3176.	Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. [electronic resource] by Santoro, Claudia Giugliano, Teresa Kraemer, Markus Torella, Annalaura Schwitalla, Jan Claudius Cirillo, Mario Melis, Daniela Berlit, Peter Nigro, Vincenzo Perrotta, Silverio Piluso, Giulio Producer: 20190117 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3177.	An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18). [electronic resource] by Park, Jin-Mo Lee, Byeonghyeon Kim, Jong-Heun Park, Seong-Yong Yu, Jinhoon Kim, Un-Kyung Park, Jin-Sung Producer: 20201204 In: Scientific reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3178.	A new report of autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) with a homozygous pattern from Iran. [electronic resource] by Khabbazi, Alireza Rahbar Kafshboran, Haniyeh Nasiri Aghdam, Maryam Nouri Nojadeh, Jafar Daghagh, Hossein Daneshmandpour, Yousef Kazemzadeh, Mina Hamzeiy, Hamid Sakhinia, Ebrahim Producer: 20210519 In: Immunology letters vol. 221 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3179.	Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant. [electronic resource] by Lane, Conor M Giudicessi, John R Ye, Dan Tester, David J Rohatgi, Ram K Bos, J Martijn Ackerman, Michael J Producer: 20190219 In: Heart rhythm vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3180.	Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience. [electronic resource] by Hu, Xuyun Li, Niu Xu, Yufei Li, Guoqiang Yu, Tingting Yao, Ru-En Fu, Lijun Wang, Jiwen Yin, Lei Yin, Yong Wang, Ying Jin, Xingming Wang, Xiumin Wang, Jian Shen, Yiping Producer: 20190201 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)

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