Your search returned 4080 results.

Results
	2341.	A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. [electronic resource] by Khateb, Samer Kowalewski, Björn Bedoni, Nicola Damme, Markus Pollack, Netta Saada, Ann Obolensky, Alexey Ben-Yosef, Tamar Gross, Menachem Dierks, Thomas Banin, Eyal Rivolta, Carlo Sharon, Dror 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)
	2342.	A Quantitative Analysis of Subclonal and Clonal Gene Mutations before and after Therapy in Chronic Lymphocytic Leukemia. [electronic resource] by Amin, Nisar A Seymour, Erlene Saiya-Cork, Kamlai Parkin, Brian Shedden, Kerby Malek, Sami N Producer: 20180112 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2343.	The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers. [electronic resource] by Weigelt, Britta Bi, Rui Kumar, Rahul Blecua, Pedro Mandelker, Diana L Geyer, Felipe C Pareja, Fresia James, Paul A Couch, Fergus J Eccles, Diana M Blows, Fiona Pharoah, Paul Li, Anqi Selenica, Pier Lim, Raymond S Jayakumaran, Gowtham Waddell, Nic Shen, Ronglai Norton, Larry Wen, Hannah Y Powell, Simon N Riaz, Nadeem Robson, Mark E Reis-Filho, Jorge S Chenevix-Trench, Georgia Producer: 20190930 In: Journal of the National Cancer Institute vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2344.	A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family. [electronic resource] by Deng, Yuyuan Niu, Zhijie Fan, LiangLiang Ling, Jie Chen, Hongsheng Cai, Xinzhang Mei, Lingyun He, Chufeng Zhang, Xuewei Wen, Jie Li, Meng Li, Wu Li, Taoxi Sang, Shushan Liu, Yalan Feng, Yong Producer: 20180924 In: Journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2345.	Gratitude, protective buffering, and cognitive dissonance: How families respond to pediatric whole exome sequencing in the absence of actionable results. [electronic resource] by Werner-Lin, Allison Zaspel, Lori Carlson, Mae Mueller, Rebecca Walser, Sarah A Desai, Ria Bernhardt, Barbara A Producer: 20190228 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)
	2346.	Further evidence for the involvement of [electronic resource] by Tan, Queenie K-G Cope, Heidi Spillmann, Rebecca C Stong, Nicholas Jiang, Yong-Hui McDonald, Marie T Rothman, Jennifer A Butler, Megan W Frush, Donald P Lachman, Ralph S Lee, Brendan Bacino, Carlos A Bonner, Melanie J McCall, Chad M Pendse, Avani A Walley, Nicole Shashi, Vandana Pena, Loren D M Producer: 20190731 In: Cold Spring Harbor molecular case studies vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2347.	Myofibromatosis presenting as reticulated vascular changes and subcutaneous atrophy in a patient with somatic mosaicism of PDGFRB mutation. [electronic resource] by Zhong, C S Song, H Weiss, A Tan, W-H Coury, S Huang, J T Producer: 20191113 In: The British journal of dermatology vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2348.	A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies. [electronic resource] by Liu, Yuwen Liang, Yanyu Cicek, A Ercument Li, Zhongshan Li, Jinchen Muhle, Rebecca A Krenzer, Martina Mei, Yue Wang, Yan Knoblauch, Nicholas Morrison, Jean Zhao, Siming Jiang, Yi Geller, Evan Ionita-Laza, Iuliana Wu, Jinyu Xia, Kun Noonan, James P Sun, Zhong Sheng He, Xin Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2349.	Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. [electronic resource] by Najafi, Maryam Kordi-Tamandani, Dor Mohammad Behjati, Farkhondeh Sadeghi-Bojd, Simin Bakey, Zeineb Karimiani, Ehsan Ghayoor Schüle, Isabel Azarfar, Anoush Schmidts, Miriam Producer: 20190419 In: Orphanet journal of rare diseases vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2350.	CAPS Mutations Are Potentially Associated with Unexplained Recurrent Pregnancy Loss. [electronic resource] by Pan, Hong Xiang, Huifen Wang, Jing Wei, Zhaolian Zhou, Yiran Liu, Beihong Li, Tengyan Ma, Xu Cao, Yunxia Wang, Binbin Producer: 20191021 In: The American journal of pathology vol. 189 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2351.	Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis. [electronic resource] by Saes, Joline L Simons, Annet de Munnik, Sonja A Nijziel, Marten R Blijlevens, Nicole M A Jongmans, Marjolijn C van der Reijden, Bert A Smit, Yolba Brons, Paul P van Heerde, Waander L Schols, Saskia E M Producer: 20190429 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2352.	MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. [electronic resource] by Bugiardini, Enrico Mitchell, Alice L Rosa, Ilaria Dalla Horning-Do, Hue-Tran Pitmann, Alan M Poole, Olivia V Holton, Janice L Shah, Sachit Woodward, Cathy Hargreaves, Iain Quinlivan, Rosaline Amunts, Alexey Wiesner, Rudolf J Houlden, Henry Holt, Ian J Hanna, Michael G Pitceathly, Robert D S Spinazzola, Antonella Producer: 20200309 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2353.	Phenotypic spectrum of ALPK3-related cardiomyopathy. [electronic resource] by Al Senaidi, Khalfan Joshi, Niranjan Al-Nabhani, Maryam Al-Kasbi, Ghalia Al Farqani, Abdullah Al-Thihli, Khalid Al-Maawali, Almundher Producer: 20200608 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2354.	Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. [electronic resource] by Atzmony, Lihi Khan, Habib M Lim, Young H Paller, Amy S Levinsohn, Jonathan L Holland, Kristen E Mirza, Fatima Nadeem Yin, Emily Ko, Christine J Leventhal, Jonathan S Choate, Keith A Producer: 20200211 In: JAMA dermatology vol. 155 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2355.	Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy. [electronic resource] by Guo, Li-Yun Zheng, Sui-Lian Li, Jun Zhu, Qin Duan, Wen-Hua Zhang, Yuan Zhu, Ying-Ting Hu, Min Producer: 20200313 In: Ophthalmic genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2356.	A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. [electronic resource] by Li, Taoxi Feng, Yong Liu, Yalan He, Chufeng Liu, Jing Chen, Hongsheng Deng, Yuyuan Li, Meng Li, Wu Song, Jian Niu, Zhijie Sang, Shushan Wen, Jie Men, Meichao Chen, Xiaoya Li, Jiada Liu, Xuezhong Ling, Jie Producer: 20190618 In: Gene vol. 704 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2357.	In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees. [electronic resource] by Pemov, Alexander Pathak, Anand Jones, Samantha J Dewan, Ramita Merberg, Jessica Karra, Sirisha Kim, Jung Arons, Evgeny Ravichandran, Sarangan Luke, Brian T Suman, Shalabh Yeager, Meredith Dyer, Martin J S Lynch, Henry T Greene, Mark H Caporaso, Neil E Kreitman, Robert J Goldin, Lynn R Spinelli, John J Brooks-Wilson, Angela McMaster, Mary L Stewart, Douglas R Producer: 20201027 In: Leukemia vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2358.	Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants. [electronic resource] by Chapman, Gavin Moreau, Julie L M I P, Eddie Szot, Justin O Iyer, Kavitha R Shi, Hongjun Yam, Michelle X O'Reilly, Victoria C Enriquez, Annabelle Greasby, Joelene A Alankarage, Dimuthu Martin, Ella M M A Hanna, Bernadette C Edwards, Matthew Monger, Steven Blue, Gillian M Winlaw, David S Ritchie, Helen E Grieve, Stuart M Giannoulatou, Eleni Sparrow, Duncan B Dunwoodie, Sally L Producer: 20210603 In: Human molecular genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2359.	Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy. [electronic resource] by Zhang, Lin Zhang, Xiang Xu, Huijuan Huang, Lulin Zhang, Shanshan Liu, Wenjing Yang, Yeming Fei, Ping Li, Shujin Yang, Mu Zhao, Peiquan Zhu, Xianjun Yang, Zhenglin Producer: 20200608 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2360.	Whole-exome sequencing of familial esophageal squamous cell carcinoma identified rare pathogenic variants in new predisposition genes. [electronic resource] by Golyan, F F Druley, T E Abbaszadegan, M R Producer: 20201223 In: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 4080 results.