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	841.	Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. [electronic resource] by Clements, Suzanne E Wessagowit, Vesarat Lai-Cheong, Joey E Arita, Ken McGrath, John A Producer: 20080319 In: Journal of dermatological science vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	842.	Natural gene therapy in dystrophic epidermolysis bullosa. [electronic resource] by van den Akker, Peter C Nijenhuis, Miranda Meijer, Gonnie Hofstra, Robert M W Jonkman, Marcel F Pasmooij, Anna M G Producer: 20120410 In: Archives of dermatology vol. 148 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	843.	Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation. [electronic resource] by Weichert, Jan Schröer, Andreas Beyer, Daniel Alexander Gillessen-Kaesbach, Gabriele Stefanova, Irina Producer: 20110928 In: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	844.	New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis. [electronic resource] by Umemoto, H Akiyama, M Yanagi, T Sakai, K Aoyama, Y Oizumi, A Suga, Y Kitagawa, Y Shimizu, H Producer: 20110606 In: Journal of dermatological science vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	845.	Birt-Hogg-Dubé syndrome: report of a new mutation. [electronic resource] by Rehman, Habib U Producer: 20121029 In: Canadian respiratory journal vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	846.	Extended spectrum of MBD5 mutations in neurodevelopmental disorders. [electronic resource] by Bonnet, Céline Ali Khan, Asma Bresso, Emmanuel Vigouroux, Charlène Béri, Mylène Lejczak, Sarah Deemer, Bénédicte Andrieux, Joris Philippe, Christophe Moncla, Anne Giurgea, Irina Devignes, Marie-Dominique Leheup, Bruno Jonveaux, Philippe Producer: 20140804 In: European journal of human genetics : EJHG vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	847.	Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene. [electronic resource] by Shirafuji, Toshihiko Shimazaki, Haruo Miyagi, Tatsuhiro Ueyama, Takehiko Adachi, Naoko Tanaka, Shigeru Hide, Izumi Saito, Naoaki Sakai, Norio Producer: 20200421 In: Molecular and cellular neurosciences vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	848.	[Nonsense mutations and genetic compensation response]. [electronic resource] by Ma, Zhi Peng Chen, Jun Producer: 20190814 In: Yi chuan = Hereditas vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	849.	Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report. [electronic resource] by Hou, Ling Du, Yue 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)
	850.	A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the alpha1 domain. [electronic resource] by Tamouza, R Sadki, K Schaeffer, V Carbonnelle, E Tatari, Z Chabod, J Toubert, A Raffoux, C Sayada, C Charron, D Producer: 20000921 In: Tissue antigens vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	851.	Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family. [electronic resource] by Lachmann, H J Booth, D R Bybee, A Hawkins, P N Producer: 20000915 In: Human mutation vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	852.	Molecular basis of congenital afibrinogenaemia in a Dutch family. [electronic resource] by Remijn, Jasper A van Wijk, Richard Nieuwenhuis, H Karel de Groot, Philip G van Solinge, Wouter W Producer: 20040420 In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	853.	Analysis of dystrophin mRNA from skeletal muscle but not from lymphocytes led to identification of a novel nonsense mutation in a carrier of Duchenne muscular dystrophy. [electronic resource] by Ito, T Takeshima, Y Yagi, M Kamei, S Wada, H Nakamura, H Matsuo, M Producer: 20030725 In: Journal of neurology vol. 250 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	854.	A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. [electronic resource] by Richardson, R J Joss, S Tomkin, S Ahmed, M Sheridan, E Dixon, M J Producer: 20060809 In: Journal of medical genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	855.	C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene. [electronic resource] by Suminaga, Ryo Takeshima, Yasuhiro Wada, Hiroko Yagi, Mariko Matsuo, Masafumi Producer: 20050304 In: Pediatric research vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	856.	Gene symbol: RYR1. Disease: malignant hyperthermia. [electronic resource] by Dekomien, G Gencik, M Gencikova, A Klenk, Y Epplen, J T Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	857.	Gene symbol: RYR1. Disease: malignant hyperthermia. [electronic resource] by Dekomien, G Gencik, M Gencikova, A Klenk, Y Epplen, J T Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	858.	Gene symbol: RYR1. Disease: malignant hyperthermia. [electronic resource] by Dekomien, G Gencik, M Gencikova, A Klenk, Y Epplen, J T Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	859.	A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. [electronic resource] by de Bernabé, D Beltrán-Valero van Bokhoven, H van Beusekom, E Van den Akker, W Kant, S Dobyns, W B Cormand, B Currier, S Hamel, B Talim, B Topaloglu, H Brunner, H G Producer: 20040223 In: Journal of medical genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	860.	Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X. [electronic resource] by Yamamoto, Yoichi Nakamori, Masayuki Konaka, Kuni Nagano, Seiichi Shimazaki, Haruo Takiyama, Yoshihisa Sakoda, Saburo Producer: 20070226 In: Journal of neurology vol. 253 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.