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	2701.	A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. [electronic resource] by Callén, Elsa Casado, José A Tischkowitz, Marc D Bueren, Juan A Creus, Amadeu Marcos, Ricard Dasí, Angeles Estella, Jesús M Muñoz, Arturo Ortega, Juan J de Winter, Johan Joenje, Hans Schindler, Detlev Hanenberg, Helmut Hodgson, Shirley V Mathew, Christopher G Surrallés, Jordi Producer: 20050324 In: Blood vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2702.	Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy. [electronic resource] by Kerem, Eitan Producer: 20060120 In: Pediatric pulmonology vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2703.	Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. [electronic resource] by Specktor, Polina Cooper, John G Indelman, Margarita Sprecher, Eli Producer: 20060803 In: Journal of human genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2704.	DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. [electronic resource] by Yang, Y Ding, B Wang, K Bu, D Tu, P Zhu, X Producer: 20041007 In: The British journal of dermatology vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2705.	PAX6 mutations: genotype-phenotype correlations. [electronic resource] by Tzoulaki, Ioanna White, Ian M S Hanson, Isabel M Producer: 20060524 In: BMC genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2706.	mRNA surveillance of expressed pseudogenes in C. elegans. [electronic resource] by Mitrovich, Quinn M Anderson, Philip Producer: 20050913 In: Current biology : CB vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2707.	Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. [electronic resource] by Chassaing, N Martin, L Calvas, P Le Bert, M Hovnanian, A Producer: 20060717 In: Journal of medical genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2708.	[The EXT2 gene mutation in a family with hereditary multiple exostoses]. [electronic resource] by Yao, Feng Wang, Yingtai Liao, Shixiu Wang, Li Wang, Tao Kang, Bing Producer: 20100521 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2709.	Achondrogenesis type 1A--from mouse to human. [electronic resource] by Freeze, Hudson H Producer: 20100128 In: The New England journal of medicine vol. 362 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2710.	A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. [electronic resource] by Houlden, Henry Hammans, Simon Katifi, Haider Reilly, Mary M Producer: 20090311 In: Neurology vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2711.	Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. [electronic resource] by Dreyer, Bo Brox, Vigdis Tranebjaerg, Lisbeth Rosenberg, Thomas Sadeghi, Andrè M Möller, Claes Nilssen, Oivind Producer: 20080402 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2712.	Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. [electronic resource] by Seal, Sheila Thompson, Deborah Renwick, Anthony Elliott, Anna Kelly, Patrick Barfoot, Rita Chagtai, Tasnim Jayatilake, Hiran Ahmed, Munaza Spanova, Katarina North, Bernard McGuffog, Lesley Evans, D Gareth Eccles, Diana Easton, Douglas F Stratton, Michael R Rahman, Nazneen Producer: 20070118 In: Nature genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2713.	Pseudouridylation of helix 69 of 23S rRNA is necessary for an effective translation termination. [electronic resource] by Ejby, Morten Sørensen, Michael A Pedersen, Steen Producer: 20080118 In: Proceedings of the National Academy of Sciences of the United States of America vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2714.	A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. [electronic resource] by Ruiz, Angeles García-Villoria, Judit Ormazabal, Aida Zschocke, Johannes Fiol, Miquel Navarro-Sastre, Aleix Artuch, Rafael Vilaseca, Maria Antonia Ribes, Antonia Producer: 20080403 In: Molecular genetics and metabolism vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2715.	Nonsense-mutated inlA and prfA not widely distributed in Listeria monocytogenes isolates from ready-to-eat seafood products in Japan. [electronic resource] by Handa-Miya, Satoko Kimura, Bon Takahashi, Hajime Sato, Miki Ishikawa, Tatsuya Igarashi, Kazunori Fujii, Tateo Producer: 20070919 In: International journal of food microbiology vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2716.	Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism. [electronic resource] by Arman, Ahmet Ozon, Alev Isguven, Pinar S Coker, Ajda Peker, Ismail Yordam, Nursen Producer: 20080430 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2717.	Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. [electronic resource] by Cho, Sang Hyun Seymen, Figen Lee, Kyung-Eun Lee, Sook-Kyung Kweon, Young-Sun Kim, Kyung Jin Jung, Seung-Eun Song, Su Jeong Yildirim, Mine Bayram, Merve Tuna, Elif Bahar Gencay, Koray Kim, Jung-Wook Producer: 20120423 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2718.	Somatic mosaicism in primary immune deficiencies. [electronic resource] by Wada, Taizo Candotti, Fabio Producer: 20090701 In: Current opinion in allergy and clinical immunology vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2719.	Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa. [electronic resource] by Huang, Yukan Zhang, Jing Li, Chang Yang, Guohua Liu, Mugen Wang, Qing K Tang, Zhaohui Producer: 20100913 In: BMC medical genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2720.	Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. [electronic resource] by França, Marcela M Jorge, Alexander A L Carvalho, Luciani R S Costalonga, Everlayny F Vasques, Gabriela A Leite, Claudia C Mendonca, Berenice B Arnhold, Ivo J P Producer: 20101210 In: The Journal of clinical endocrinology and metabolism vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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