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	2021.	A nonsense mutation in agrA accounts for the defect in agr expression and the avirulence of Staphylococcus aureus 8325-4 traP::kan. [electronic resource] by Adhikari, Rajan P Arvidson, Staffan Novick, Richard P Producer: 20071010 In: Infection and immunity vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2022.	[Detection of genomic duplications and deletions of the DMD gene in affected males and female carriers by using mutiplex ligation-dependent probe amplification]. [electronic resource] by Shen, Ben-chang Zhang, Cheng Sun, Xiao-fang Zhang, Hui-min Li, Shao-ying Producer: 20090327 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 24 Availability: No items available. Save to lists Add to cart (remove)
	2023.	Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. [electronic resource] by Blahakova, I Makaturova, E Kotrbova, L Soukupova, M Lastuvkova, J Kozak, L Producer: 20080108 In: Journal of inherited metabolic disease vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2024.	Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. [electronic resource] by Kwon, Min-Jung Kim, Hee-Jin Lee, Ki-O Jung, Chul Won Kim, Sun-Hee Producer: 20100809 In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2025.	Epilepsy caused by CDKL5 mutations. [electronic resource] by Castrén, Maija Gaily, Eija Tengström, Carola Lähdetie, Jaana Archer, Hayley Ala-Mello, Sirpa Producer: 20111128 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2026.	Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. [electronic resource] by Bauer, Peter Stevanin, Giovanni Beetz, Christian Synofzik, Matthis Schmitz-Hübsch, Tanja Wüllner, Ullrich Berthier, Eric Ollagnon-Roman, Elisabeth Riess, Olaf Forlani, Sylvie Mundwiller, Emeline Durr, Alexandra Schöls, Ludger Brice, Alexis Producer: 20101210 In: Journal of neurology, neurosurgery, and psychiatry vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2027.	Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families. [electronic resource] by Azeem, Zahid Wasif, Naveed Basit, Sulman Razak, Suhail Waheed, Raja Amjad Islam, Adeel Ayub, Muhammad Kamran-ul-hassan Naqvi, Syed Ali, Ghazanfar Ahmad, Wasim Producer: 20111209 In: The Journal of dermatology vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2028.	Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? [electronic resource] by Xekouki, Paraskevi Pacak, Karel Almeida, Madson Wassif, Christopher A Rustin, Pierre Nesterova, Maria de la Luz Sierra, Maria Matro, Joey Ball, Evan Azevedo, Monalisa Horvath, Anelia Lyssikatos, Charalampos Quezado, Martha Patronas, Nicholas Ferrando, Barbara Pasini, Barbara Lytras, Aristides Tolis, George Stratakis, Constantine A Producer: 20120706 In: The Journal of clinical endocrinology and metabolism vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2029.	Truncated TrkB: beyond a dominant negative receptor. [electronic resource] by Fenner, Barbara M Producer: 20120716 In: Cytokine & growth factor reviews vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2030.	Evidence that the Upf1-related molecular motor scans the 3'-UTR to ensure mRNA integrity. [electronic resource] by Shigeoka, Toshiaki Kato, Sayaka Kawaichi, Masashi Ishida, Yasumasa Producer: 20121105 In: Nucleic acids research vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2031.	Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man. [electronic resource] by Celtikci, Basak Topçu, Meral Ozkara, Hatice Asuman Producer: 20111007 In: Clinical biochemistry vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2032.	L157X nonsense mutation of the succinate dehydrogenase subunit B gene in a Japanese patient with right paraaortic paraganglioma. [electronic resource] by Sato, Haruhiro Kanai, Genta Hirabayshi, Kenichi Kajiwara, Hiroshi Itoh, Johbu Osamura, Robert Yoshiyuki Producer: 20110201 In: Endocrine vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2033.	Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan. [electronic resource] by Shaiq, Pakeeza A Klausegger, Alfred Muzaffar, Fawad Bauer, Johann W Khan, Muhammad I Khanum, Azra Qamar, Raheel Raja, Ghazala K Producer: 20121025 In: The Journal of dermatology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2034.	Transporter associated with antigen processing deficiency syndrome: case report of an adolescent with chronic perforated granulomatous skin lesions due to TAP2 mutation. [electronic resource] by Konstantinou, Paschalis Kanariou, Maria Giliani, Silvia C Pantelidaki, Aikaterini Kokolakis, Athanasios Tosca, Androniki Producer: 20140818 In: Pediatric dermatology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2035.	WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. [electronic resource] by Mignot, Cyril Lambert, Laetitia Pasquier, Laurent Bienvenu, Thierry Delahaye-Duriez, Andrée Keren, Boris Lefranc, Jérémie Saunier, Aline Allou, Lila Roth, Virginie Valduga, Mylène Moustaïne, Aissa Auvin, Stéphane Barrey, Catherine Chantot-Bastaraud, Sandra Lebrun, Nicolas Moutard, Marie-Laure Nougues, Marie-Christine Vermersch, Anne-Isabelle Héron, Bénédicte Pipiras, Eva Héron, Delphine Olivier-Faivre, Laurence Guéant, Jean-Louis Jonveaux, Philippe Philippe, Christophe Producer: 20150806 In: Journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2036.	Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: a novel association with maternal uniparental isodisomy 6. [electronic resource] by Takimoto, Tomohito Takada, Hidetoshi Ishimura, Masataka Kirino, Makiko Hata, Kenichiro Ohara, Osamu Morio, Tomohiro Hara, Toshiro Producer: 20160104 In: Neonatology vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2037.	A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea. [electronic resource] by Hassan, H A Mazen, I Gad, Y Z Ali, O S M Mekkawy, M Essawi, M L Producer: 20140902 In: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2038.	Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa. [electronic resource] by Jeon, In Kyung Kim, Song-Ee Kim, Soo-Chan Producer: 20150515 In: The Journal of dermatology vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2039.	A global investigation of gene deletion strains that affect premature stop codon bypass in yeast, Saccharomyces cerevisiae. [electronic resource] by Samanfar, Bahram Tan, Le Hoa Shostak, Kristina Chalabian, Firoozeh Wu, Zongbin Alamgir, Md Sunba, Noor Burnside, Daniel Omidi, Katayoun Hooshyar, Mohsen Galván Márquez, Imelda Jessulat, Matthew Smith, Myron L Babu, Mohan Azizi, Ali Golshani, Ashkan Producer: 20141203 In: Molecular bioSystems vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2040.	Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking. [electronic resource] by Stölting, Gabriel Bungert-Plümke, Stefanie Franzen, Arne Fahlke, Christoph Producer: 20160421 In: The Journal of biological chemistry vol. 290 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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