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	1661.	Sporadic Kindler syndrome with a novel mutation. [electronic resource] by Almeida, Hiram Larangeira de Heckler, Gláucia Thomas Fong, Kenneth Lai-Cheong, Joey McGrath, John Producer: 20140516 In: Anais brasileiros de dermatologia vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1662.	Mild case of D-bifunctional protein deficiency associated with novel gene mutations. [electronic resource] by Mizumoto, Hiroshi Akashi, Ryoko Hikita, Norikatsu Kumakura, Akira Yoshida, Yoko Honda, Ayako Shimozawa, Nobuyuki Hata, Daisuke Producer: 20121011 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1663.	Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia. [electronic resource] by Zhao, Zhen Pei, Yu Huang, Xianglan Liu, Yaping Yang, Wei Sun, Jing Si, Nuo Xing, Xiaoping Li, Mei Wang, Ou Jiang, Yan Zhang, Xue Xia, Weibo Producer: 20131017 In: American journal of nephrology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1664.	A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. [electronic resource] by Cefalù, Angelo B Pirruccello, James P Noto, Davide Gabriel, Stacey Valenti, Vincenza Gupta, Namrata Spina, Rossella Tarugi, Patrizia Kathiresan, Sekar Averna, Maurizio R Producer: 20130925 In: Arteriosclerosis, thrombosis, and vascular biology vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1665.	Ex uno plures: clonal reinforcement drives evolution of a simple microbial community. [electronic resource] by Kinnersley, Margie Wenger, Jared Kroll, Evgueny Adams, Julian Sherlock, Gavin Rosenzweig, Frank Producer: 20150806 In: PLoS genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1666.	Frequent truncating mutations of STAG2 in bladder cancer. [electronic resource] by Black, Peter Producer: 20140527 In: Urology vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1667.	Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. [electronic resource] by Niskanen, Julia Dillard, Kati Arumilli, Meharji Salmela, Elina Anttila, Marjukka Lohi, Hannes Hytönen, Marjo K Producer: 20170911 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1668.	Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects. [electronic resource] by Durbin, Matthew D Cadar, Adrian G Williams, Charles H Guo, Yan Bichell, David P Su, Yan Ru Hong, Charles C Producer: 20170914 In: Pediatric cardiology vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1669.	Refractory monogenic Crohn's disease due to X-linked inhibitor of apoptosis deficiency. [electronic resource] by Coelho, Rosa Peixoto, Armando Amil-Dias, Jorge Trindade, Eunice Campos, Miguel Magina, Sofia Charbit-Henrion, Fabienne Lenoir, Christelle Latour, Sylvain Magro, Fernando Macedo, Guilherme Producer: 20170403 In: International journal of colorectal disease vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1670.	Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene. [electronic resource] by Ochando, I Vidal, V Gascón, J Acién, M Urbano, A Rueda, J Producer: 20170130 In: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1671.	Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease. [electronic resource] by Nagtzaam, I F Peeters, V P M Vreeburg, M Wagner, A Steijlen, P M van Geel, M van Steensel, M A M Producer: 20190610 In: The British journal of dermatology vol. 178 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1672.	A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family. [electronic resource] by Maranghi, Marianna Truglio, Gessica Gallo, Antonio Grieco, Elvira Verrienti, Antonella Montali, Anna Gallo, Pietro Alesini, Francesco Arca, Marcello Lucarelli, Marco Producer: 20190603 In: Biochemical and biophysical research communications vol. 508 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1673.	Mutations in the γ-secretase genes PSEN1, PSENEN, and NCSTN in a family with acne inversa. [electronic resource] by Shi, Tian-Wei Bai, Nan Zhang, Jiang-An Lu, Feng Chen, Xiao-Bing Kong, Xiang-Dong Yu, Jian-Bin Producer: 20190515 In: European journal of dermatology : EJD vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1674.	FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. [electronic resource] by Schrauwen, Isabelle Giese, Arnaud Pj Aziz, Abdul Lafont, David Tino Chakchouk, Imen Santos-Cortez, Regie Lyn P Lee, Kwanghyuk Acharya, Anushree Khan, Falak Sher Ullah, Asmat Nickerson, Deborah A Bamshad, Michael J Ali, Ghazanfar Riazuddin, Saima Ansar, Muhammad Ahmad, Wasim Ahmed, Zubair M Leal, Suzanne M Producer: 20200527 In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1675.	Rothmund-Thomson syndrome type 2 - a rare cause of chronic wounds. [electronic resource] by Moelleken, Maurice Jockenhöfer, Finja Dissemond, Joachim Producer: 20200228 In: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1676.	Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing. [electronic resource] by Karim, Noreen Ullah, Aman Murtaza, Ghulam Naeem, Muhammad Producer: 20190701 In: Genetic testing and molecular biomarkers vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1677.	Characterization of a new GmFAD3A allele in Brazilian CS303TNKCA soybean cultivar. [electronic resource] by Silva, Luiz Claudio Costa Bueno, Rafael Delmond da Matta, Loreta Buuda Pereira, Pedro Henrique Scarpelli Mayrink, Danyelle Barbosa Piovesan, Newton Deniz Sediyama, Carlos Sigueyuki Fontes, Elizabeth Pacheco Batista Cardinal, Andrea J Dal-Bianco, Maximiller Producer: 20180423 In: TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1678.	Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review. [electronic resource] by Tan, Li Bi, Bo Zhao, Peiwei Cai, Xiaonan Wan, Chunhui Shao, Jianbo He, Xuelian Producer: 20171204 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1679.	Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa. [electronic resource] by Gan, Li Yang, Chen Shu, Yi Liu, Fang Sun, Ruiting Deng, Bolin Xu, Jiaxin Huang, Guo Qu, Chao Gong, Bo Li, Jing Producer: 20210113 In: Clinica chimica acta; international journal of clinical chemistry vol. 507 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1680.	Linkage and mutation analysis in two Taiwanese families with long QT syndrome. [electronic resource] by Ko, Y L Tai, D Y Chen, S A Lee-Chen, G J Chu, C H Lin, M W Producer: 20020207 In: Journal of the Formosan Medical Association = Taiwan yi zhi vol. 100 Availability: No items available. Save to lists Add to cart (remove)

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