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Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
Dupré, Nicolas, Gros-Louis, François, Chrestian, Nicolas, Verreault, Steve, Brunet, Denis, de Verteuil, Danielle, Brais, Bernard, Bouchard, Jean-Pierre, Rouleau, Guy A.
Published in Annals of neurology (01.07.2007)
Published in Annals of neurology (01.07.2007)
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Usefulness of detection of clarithromycin‐resistant Helicobacter pylori from fecal specimens for young adults treated with eradication therapy
Osaki, Takako, Mabe, Katsuhiro, Zaman, Cynthia, Yonezawa, Hideo, Okuda, Masumi, Amagai, Kenji, Fujieda, Shinji, Goto, Mitsuhide, Shibata, Wataru, Kato, Mototsugu, Kamiya, Shigeru
Published in Helicobacter (Cambridge, Mass.) (01.10.2017)
Published in Helicobacter (Cambridge, Mass.) (01.10.2017)
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Calcium-Sensing Receptor (CASR) Mutations in Hypercalcemic States: Studies from a Single Endocrine Clinic Over Three Years
Guarnieri, Vito, Canaff, Lucie, Yun, Francisco H. J., Scillitani, Alfredo, Battista, Claudia, Muscarella, Lucia A., Wong, Betty Y. L., Notarangelo, Angelantonio, D'Agruma, Leonardo, Sacco, Michele, Cole, David E. C., Hendy, Geoffrey N.
Published in The journal of clinical endocrinology and metabolism (01.04.2010)
Published in The journal of clinical endocrinology and metabolism (01.04.2010)
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TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China
Zeng, Li, Zhao, Jing, Chen, Yingjun, Zhao, Feng, Li, Meiyan, Chao-Shern, Connie, Moore, Tara, Marshall, John, Zhou, Xingtao
Published in Scientific reports (04.04.2017)
Published in Scientific reports (04.04.2017)
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A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population
Liu, Haochen, Zhang, Jin, Song, Shujuan, Zhao, Hongshan, Han, Dong, Feng, Hailan
Published in European journal of oral sciences (01.10.2012)
Published in European journal of oral sciences (01.10.2012)
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Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension
Machado, Rajiv D., Aldred, Micheala A., James, Victoria, Harrison, Rachel E., Patel, Bhakti, Schwalbe, Edward C., Gruenig, Ekkehard, Janssen, Bart, Koehler, Rolf, Seeger, Werner, Eickelberg, Oliver, Olschewski, Horst, Gregory Elliott, C., Glissmeyer, Eric, Carlquist, John, Kim, Miryoung, Torbicki, Adam, Fijalkowska, Anna, Szewczyk, Grzegorz, Parma, Jasmine, Abramowicz, Marc J., Galie, Nazzareno, Morisaki, Hiroko, Kyotani, Shingo, Nakanishi, Norifumi, Morisaki, Takayuki, Humbert, Marc, Simonneau, Gerald, Sitbon, Olivier, Soubrier, Florent, Coulet, Florence, Morrell, Nicholas W., Trembath, Richard C.
Published in Human mutation (01.02.2006)
Published in Human mutation (01.02.2006)
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Carrier screening by next‐generation sequencing: health benefits and cost effectiveness
Azimi, Mohammad, Schmaus, Kyle, Greger, Valerie, Neitzel, Dana, Rochelle, Robert, Dinh, Tuan
Published in Molecular genetics & genomic medicine (01.05.2016)
Published in Molecular genetics & genomic medicine (01.05.2016)
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Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study
Norsworthy, Penny J, Vandrovcova, Jana, Thomas, Ellen RA, Campbell, Archie, Kerr, Shona M, Biggs, Jennifer, Game, Laurence, Soutar, Anne K, Smith, Blair H, Dominiczak, Anna F, Porteous, David J, Morris, Andrew D, Scotland, Generation, Aitman, Timothy J
Published in BMC genetics (23.06.2014)
Published in BMC genetics (23.06.2014)
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Utilization of a MAB for BRAF(V600E) detection in papillary thyroid carcinoma
Bullock, M, O'Neill, C, Chou, A, Clarkson, A, Dodds, T, Toon, C, Sywak, M, Sidhu, S B, Delbridge, L W, Robinson, B G, Learoyd, D L, Capper, D, von Deimling, A, Clifton-Bligh, R J, Gill, A J
Published in Endocrine-related cancer (01.12.2012)
Published in Endocrine-related cancer (01.12.2012)
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Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly
Xin, Qian, Li, Lin, Li, Jiangxia, Qiu, Rongfang, Guo, Chenhong, Gong, Yaoqin, Liu, Qiji
Published in Gene (10.05.2012)
Published in Gene (10.05.2012)
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Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus
Wang, Xiao-Fang, Chen, Hui, Huang, Peng-Juan, Feng, Zhuo-Kun, Hua, Zi-Qi, Feng, Xiang, Han, Fang, Xu, Xiao-Tao, Shen, Ren-Juan, Li, Yang, Jin, Zi-Bing, Yu, Huan-Yun
Published in Frontiers in cell and developmental biology (19.02.2021)
Published in Frontiers in cell and developmental biology (19.02.2021)
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Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families
Gonzalez-Hormazabal, Patricio, Gutierrez-Enriquez, Sara, Gaete, Daniel, Reyes, Jose M., Peralta, Octavio, Waugh, Enrique, Gomez, Fernando, Margarit, Sonia, Bravo, Teresa, Blanco, Rafael, Diez, Orland, Jara, Lilian
Published in Breast cancer research and treatment (01.04.2011)
Published in Breast cancer research and treatment (01.04.2011)
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Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy
Fernandes, Alexandra R, Roma-Rodrigues, Catarina
Published in Application of clinical genetics (01.01.2014)
Published in Application of clinical genetics (01.01.2014)
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Brief Research Report: Novel Compound BCR-ABL Mutations in Late Chronic Phase Imatinib Sensitive CML Patients Are Associated with Progression to Advance Disease Phase
Iqbal, Zafar, Akram, Afia Muhammad, Akhtar, Tanveer, Aleem, Aamer, Sabar, Muhammad Farooq, Aziz, Zeba, Sajid, Nadia, Rasool, Mahmood, Asif, Muhammad, Qazi, Mehmood Husssain, Oraibi, Saleh, Gill, Ammara T, Al Jamaan, Khalid, Iqbal, Mudassar, Khalid, Ahmad Mukhtar
Published in Blood (02.12.2016)
Published in Blood (02.12.2016)
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The Genetics of Usher Syndrome in the Israeli and Palestinian Populations
Khalaileh, Ayat, Abu-Diab, Alaa, Ben-Yosef, Tamar, Raas-Rothschild, Annick, Lerer, Israela, Alswaiti, Yahya, Chowers, Itay, Banin, Eyal, Sharon, Dror, Khateb, Samer
Published in Investigative ophthalmology & visual science (01.02.2018)
Published in Investigative ophthalmology & visual science (01.02.2018)
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Detection of the T790M mutation of EGFR in plasma of advanced non-small cell lung cancer patients with acquired resistance to tyrosine kinase inhibitors (West Japan oncology group 8014LTR study)
Takahama, Takayuki, Sakai, Kazuko, Takeda, Masayuki, Azuma, Koichi, Hida, Toyoaki, Hirabayashi, Masataka, Oguri, Tetsuya, Tanaka, Hiroshi, Ebi, Noriyuki, Sawa, Toshiyuki, Bessho, Akihiro, Tachihara, Motoko, Akamatsu, Hiroaki, Bandoh, Shuji, Himeji, Daisuke, Ohira, Tatsuo, Shimokawa, Mototsugu, Nakanishi, Yoichi, Nakagawa, Kazuhiko, Nishio, Kazuto
Published in Oncotarget (06.09.2016)
Published in Oncotarget (06.09.2016)
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