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	2681.	A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord. [electronic resource] by Song, Chengyuan Peng, Linliu Wang, Shengjun Liu, Yiming Producer: 20200514 In: Journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2682.	Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma. [electronic resource] by North, Jeffrey P Golovato, Justin Vaske, Charles J Sanborn, J Zachary Nguyen, Andrew Wu, Wei Goode, Benjamin Stevers, Meredith McMullen, Kevin Perez White, Bethany E Collisson, Eric A Bloomer, Michele Solomon, David A Benz, Stephen C Cho, Raymond J Producer: 20181127 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2683.	[From a Ph.D. Thesis: Understanding the Past, Predicting the Future]. [electronic resource] by Watanabe, Kenichi Producer: 20180228 In: Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2684.	From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. [electronic resource] by Krausz, Csilla Riera-Escamilla, Antoni Chianese, Chiara Moreno-Mendoza, Daniel Ars, Elisabet Rajmil, Osvaldo Pujol, Roser Bogliolo, Massimo Blanco, Ignacio Rodríguez, Ines Badell, Isabel Ruiz-Castañé, Eduard Surrallés, Jordi Producer: 20190312 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)
	2685.	Clonal Structures of Regionally Synchronous Gastric Adenomas and Carcinomas. [electronic resource] by Jung, Seung-Hyun Kim, Shin Young An, Chang Hyeok Lee, Sung Hak Jung, Eun Sun Park, Hyeon-Chun Kim, Min Sung Chung, Yeun-Jun Lee, Sug Hyung Producer: 20191210 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)
	2686.	Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. [electronic resource] by Patil, Siddaramappa Jagdish Das Bhowmik, Aneek Bhat, Venkatraman Satidevi Vineeth, Venugopal Vasudevamurthy, Rashmi Dalal, Ashwin 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)
	2687.	Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. [electronic resource] by Blauwendraat, Cornelis Reed, Xylena Kia, Demis A Gan-Or, Ziv Lesage, Suzanne Pihlstrøm, Lasse Guerreiro, Rita Gibbs, J Raphael Sabir, Marya Ahmed, Sarah Ding, Jinhui Alcalay, Roy N Hassin-Baer, Sharon Pittman, Alan M Brooks, Janet Edsall, Connor Hernandez, Dena G Chung, Sun Ju Goldwurm, Stefano Toft, Mathias Schulte, Claudia Bras, Jose Wood, Nicholas W Brice, Alexis Morris, Huw R Scholz, Sonja W Nalls, Mike A Singleton, Andrew B Cookson, Mark R Producer: 20191009 In: JAMA neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2688.	Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss. [electronic resource] by Venugopal, Parvathy Gagliardi, Lucia Forsyth, Cecily Feng, Jinghua Phillips, Kerry Babic, Milena Poplawski, Nicola K Rienhoff, Hugh Young Schreiber, Andreas W Hahn, Christopher N Brown, Anna L Scott, Hamish S Producer: 20200303 In: BMC medical genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2689.	Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness. [electronic resource] by Lu, Xingxing Zhang, Yanmei Chen, Li Wang, Qi Zeng, Zhen'gang Dong, Cheng Qi, Yu Liu, Yuhe Producer: 20201229 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)
	2690.	Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39. [electronic resource] by Kuligina, Ekaterina S Sokolenko, Anna P Bizin, Ilya V Romanko, Alexandr A Zagorodnev, Kirill A Anisimova, Maria O Krylova, Daria D Anisimova, Elena I Mantseva, Maria A Varma, Ashok K Hasan, Syed K Ni, Valeria I Koloskov, Andrey V Suspitsin, Evgeny N Venina, Aigul R Aleksakhina, Svetlana N Sokolova, Tatiana N Milanović, Ana Marija Schürmann, Peter Prokofyeva, Darya S Bermisheva, Marina A Khusnutdinova, Elza K Bogdanova, Natalia Dörk, Thilo Imyanitov, Evgeny N Producer: 20200928 In: Breast cancer research and treatment vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2691.	Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. [electronic resource] by Lin, Angela E Alali, Abdulrazak Starr, Lois J Shah, Nidhi Beavis, Anna Pereira, Elaine M Lindsay, Mark E Klugman, Susan Producer: 20210111 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)
	2692.	A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing. [electronic resource] by Zhang, Lin Cao, Zheng Feng, Fan Xu, Ya-Nan Li, Lin Gao, Hong Producer: 20200504 In: BMC medical genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2693.	A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations. [electronic resource] by Almatrafi, Ahmad Umair, Muhammad Eldardear, Amr Al-Luqmani, Majid Hashmi, Jamil A Albalawi, Alia M Alfadhel, Majid Ramzan, Khushnooda Basit, Sulman Producer: 20210806 In: The journal of gene medicine vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2694.	A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens. [electronic resource] by Wu, Huan Gao, Yang Ma, Cong Shen, Qunshan Wang, Jiajia Lv, Mingrong Liu, Chunyu Cheng, Huiru Zhu, Fuxi Tian, Shixiong Elshewy, Nagwa Ni, Xiaoqing Tan, Qing Xu, Xiaofeng Zhou, Ping Wei, Zhaolian Zhang, Feng He, Xiaojin Cao, Yunxia Producer: 20210203 In: Journal of assisted reproduction and genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2695.	Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. [electronic resource] by Milunsky, Aubrey Baldwin, Clinton Zhang, Xiaoying Primack, Daniel Curnow, Adrian Milunsky, Jeff Producer: 20180424 In: Journal of pediatric gastroenterology and nutrition vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2696.	Precision medicine for urothelial bladder cancer: update on tumour genomics and immunotherapy. [electronic resource] by Felsenstein, Kenneth M Theodorescu, Dan Producer: 20190902 In: Nature reviews. Urology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2697.	Engineered in-vitro cell line mixtures and robust evaluation of computational methods for clonal decomposition and longitudinal dynamics in cancer. [electronic resource] by Farahani, Hossein de Souza, Camila P E Billings, Raewyn Yap, Damian Shumansky, Karey Wan, Adrian Lai, Daniel Mes-Masson, Anne-Marie Aparicio, Samuel P Shah, Sohrab Producer: 20190701 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2698.	A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases. [electronic resource] by Boemer, F Fasquelle, C d'Otreppe, S Josse, C Dideberg, V Segers, K Guissard, V Capraro, V Debray, F G Bours, V Producer: 20190819 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2699.	Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. [electronic resource] by Warejko, Jillian K Schueler, Markus Vivante, Asaf Tan, Weizhen Daga, Ankana Lawson, Jennifer A Braun, Daniela A Shril, Shirlee Amann, Kassaundra Somers, Michael J G Rodig, Nancy M Baum, Michelle A Daouk, Ghaleb Traum, Avram Z Kim, Heung Bae Vakili, Khashayar Porras, Diego Lock, James Rivkin, Michael J Chaudry, Gulraiz Smoot, Leslie B Singh, Michael N Smith, Edward R Mane, Shrikant M Lifton, Richard P Stein, Deborah R Ferguson, Michael A Hildebrandt, Friedhelm Producer: 20190123 In: Hypertension (Dallas, Tex. : 1979) vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2700.	Genetic and microscopic assessment of the human chemotherapy-exposed placenta reveals possible pathways contributive to fetal growth restriction. [electronic resource] by Verheecke, M Cortès Calabuig, A Finalet Ferreiro, J Brys, V Van Bree, R Verbist, G Everaert, T Leemans, L Gziri, M M Boere, I Halaska, M J Vanhoudt, J Amant, F Van Calsteren, K Producer: 20190130 In: Placenta vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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