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	3281.	Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. [electronic resource] by Hardies, Katia May, Patrick Djémié, Tania Tarta-Arsene, Oana Deconinck, Tine Craiu, Dana Helbig, Ingo Suls, Arvid Balling, Rudy Weckhuysen, Sarah De Jonghe, Peter Hirst, Jennifer Producer: 20160201 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3282.	[A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3β-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: a delayed diagnosis until recurrent ovary cysts]. [electronic resource] by Huang, Yonglan Zheng, Jipeng Xie, Ting Xiao, Qing Lu, Shaomei Li, Xiuzhen Cheng, Jing Chen, Lihe Liu, Li Producer: 20150330 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 52 Availability: No items available. Save to lists Add to cart (remove)
	3283.	Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome. [electronic resource] by Baharin, Mohd Farid Kader Ibrahim, Sabeera Begum Yap, Song Hong Abdul Manaf, Aina Mariana Mat Ripen, Adiratna Dhaliwal, Jasbir Singh Producer: 20160104 In: The Malaysian journal of pathology vol. 37 Availability: No items available. Save to lists Add to cart (remove)
	3284.	A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. [electronic resource] by Larti, Farzaneh Kahrizi, Kimia Musante, Luciana Hu, Hao Papari, Elahe Fattahi, Zohreh Bazazzadegan, Niloofar Liu, Zhe Banan, Mehdi Garshasbi, Masoud Wienker, Thomas F Ropers, H Hilger Galjart, Niels Najmabadi, Hossein Producer: 20151022 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3285.	A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop). [electronic resource] by Langdown, Jonathan Luddington, Roger J Huntington, James A Baglin, Trevor P Producer: 20150930 In: Blood vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3286.	Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report. [electronic resource] by Kamenarova, Kunka Simeonov, Emil Tzveova, Reni Dacheva, Daniela Penkov, Marin Kremensky, Ivo Perenovska, Penka Mitev, Vanio Kaneva, Radka Producer: 20160418 In: Human pathology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3287.	PIP3-binding proteins promote age-dependent protein aggregation and limit survival in C. elegans. [electronic resource] by Ayyadevara, Srinivas Balasubramaniam, Meenakshisundaram Johnson, Jay Alla, Ramani Mackintosh, Samuel G Shmookler Reis, Robert J Producer: 20180213 In: Oncotarget vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3288.	Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy. [electronic resource] by Feldman, Michal Hershkovitz, Israel Sklan, Ella H Kahila Bar-Gal, Gila Pap, Ildikó Szikossy, Ildikó Rosin-Arbesfeld, Rina Producer: 20160719 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3289.	Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. [electronic resource] by Rossing, Maria Albrechtsen, Anders Skytte, Anne-Bine Jensen, Uffe B Ousager, Lilian B Gerdes, Anne-Marie Nielsen, Finn C Hansen, Thomas vO Producer: 20170524 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3290.	Whole Wiskott‑Aldrich syndrome protein gene deletion identified by high throughput sequencing. [electronic resource] by He, Xiangling Zou, Runying Zhang, Bing You, Yalan Yang, Yang Tian, Xin Producer: 20180604 In: Molecular medicine reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3291.	The Gpn3 Q279* cancer-associated mutant inhibits Gpn1 nuclear export and is deficient in RNA polymerase II nuclear targeting. [electronic resource] by Barbosa-Camacho, Angel A Méndez-Hernández, Lucía E Lara-Chacón, Bárbara Peña-Gómez, Sonia G Romero, Violeta González-González, Rogelio Guerra-Moreno, José A Robledo-Rivera, Angélica Y Sánchez-Olea, Roberto Calera, Mónica R Producer: 20171120 In: FEBS letters vol. 591 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3292.	A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. [electronic resource] by Eisenberger, Tobias Di Donato, Nataliya Decker, Christian Delle Vedove, Andrea Neuhaus, Christine Nürnberg, Gudrun Toliat, Mohammad Nürnberg, Peter Mürbe, Dirk Bolz, Hanno Jörn Producer: 20181017 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)
	3293.	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)
	3294.	QRICH1 mutations cause a chondrodysplasia with developmental delay. [electronic resource] by Lui, Julian C Jee, Youn Hee Lee, Audrey Yue, Shanna Wagner, Jacob Donnelly, Deirdre E Vogt, Karen S Baron, Jeffrey Producer: 20200211 In: Clinical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3295.	Novel variants and haplotypes of human [electronic resource] by Shimizu, Makiko Yoda, Hiromi Igarashi, Narumi Makino, Miki Tokuyama, Emi Yamazaki, Hiroshi Producer: 20191219 In: Xenobiotica; the fate of foreign compounds in biological systems vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3296.	Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants. [electronic resource] by Morín, Matias Borreguero, Lucía Booth, Kevin T Lachgar, María Huygen, Patrick Villamar, Manuela Mayo, Fernando Barrio, Luis Carlos Santos Serrão de Castro, Luciana Morales, Carmelo Del Castillo, Ignacio Arellano, Beatriz Tellería, Dolores Smith, Richard J H Azaiez, Hela Moreno Pelayo, M A 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)
	3297.	A novel frameshift mutation (+G) at codons 15/16 in a beta0 thalassaemia gene results in a significant reduction of beta globin mRNA values. [electronic resource] by Mo, Q-H Li, X-R Li, C-F He, Y-L Xu, X-M Producer: 20051107 In: Journal of clinical pathology vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3298.	HTLV-I viral escape and host genetic changes in the development of adult T cell leukemia. [electronic resource] by Furukawa, Yoshitaka Tara, Mitsutoshi Izumo, Shuji Arimura, Kimiyoshi Osame, Mitsuhiro Producer: 20060111 In: International journal of cancer vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3299.	A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency. [electronic resource] by Soldà, Giulia Asselta, Rosanna Ghiotto, Rossella Tenchini, Maria Luisa Castaman, Giancarlo Duga, Stefano Producer: 20060822 In: Haematologica vol. 90 Availability: No items available. Save to lists Add to cart (remove)
	3300.	[An analysis for the phenotype and genotype of autosomal dominant polycystic kidney disease from two Chinese families]. [electronic resource] by Gao, De-xuan Cao, Qing-wei Ding, Ke-jia Zhao, Yue-ran Wang, Lai-cheng Niu, Zhi-hong Lu, Jia-ju Producer: 20060410 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 23 Availability: No items available. Save to lists Add to cart (remove)

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