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	3321.	Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. [electronic resource] by Conte, Matilde Immacolata Pescatore, Alessandra Paciolla, Mariateresa Esposito, Elio Miano, Maria Giuseppina Lioi, Maria Brigida McAleer, Maeve A Giardino, Giuliana Pignata, Claudio Irvine, Alan D Scheuerle, Angela E Royer, Ghislaine Hadj-Rabia, Smail Bodemer, Christine Bonnefont, Jean-Paul Munnich, Arnold Smahi, Asma Steffann, Julie Fusco, Francesca Ursini, Matilde Valeria Producer: 20140807 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3322.	A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome. [electronic resource] by Schrauwen, Isabelle Szelinger, Szabolcs Siniard, Ashley L Kurdoglu, Ahmet Corneveaux, Jason J Malenica, Ivana Richholt, Ryan Van Camp, Guy De Both, Matt Swaminathan, Shanker Turk, Mari Ramsey, Keri Craig, David W Narayanan, Vinodh Huentelman, Matthew J Producer: 20160429 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3323.	Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A. [electronic resource] by Carcao, Manuel D van den Berg, H Marijke Ljung, Rolf Mancuso, Maria Elisa Producer: 20130722 In: Blood vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3324.	Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. [electronic resource] by Grønskov, Karen Dooley, Christopher M Østergaard, Elsebet Kelsh, Robert N Hansen, Lars Levesque, Mitchell P Vilhelmsen, Kaj Møllgård, Kjeld Stemple, Derek L Rosenberg, Thomas Producer: 20130729 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3325.	Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report. [electronic resource] by Hiejima, Eitaro Yasumi, Takahiro Nakase, Hiroshi Matsuura, Minoru Honzawa, Yusuke Higuchi, Hirokazu Okafuji, Ikuo Yorifuji, Tohru Tanaka, Takayuki Izawa, Kazushi Kawai, Tomoki Nishikomori, Ryuta Heike, Toshio Producer: 20171127 In: Medicine vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3326.	IFT56 regulates vertebrate developmental patterning by maintaining IFTB complex integrity and ciliary microtubule architecture. [electronic resource] by Xin, Daisy Christopher, Kasey J Zeng, Lewie Kong, Yong Weatherbee, Scott D Producer: 20170912 In: Development (Cambridge, England) vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3327.	A novel dominant CRX mutation causes adult-onset macular dystrophy. [electronic resource] by Griffith, Joseph F DeBenedictis, Meghan J Traboulsi, Elias I Producer: 20180326 In: Ophthalmic genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3328.	PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice. [electronic resource] by Christou-Kent, Marie Kherraf, Zine-Eddine Amiri-Yekta, Amir Le Blévec, Emilie Karaouzène, Thomas Conne, Béatrice Escoffier, Jessica Assou, Said Guttin, Audrey Lambert, Emeline Martinez, Guillaume Boguenet, Magalie Fourati Ben Mustapha, Selima Cedrin Durnerin, Isabelle Halouani, Lazhar Marrakchi, Ouafi Makni, Mounir Latrous, Habib Kharouf, Mahmoud Coutton, Charles Thierry-Mieg, Nicolas Nef, Serge Bottari, Serge P Zouari, Raoudha Issartel, Jean Paul Ray, Pierre F Arnoult, Christophe Producer: 20190328 In: EMBO molecular medicine vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3329.	A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients. [electronic resource] by Afzal, Sibtain Ramzan, Khushnooda Ullah, Sajjad Wakil, Salma M Jamal, Arshad Basit, Sulman Waqar, Ahmed Bilal Producer: 20200303 In: BMC medical genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3330.	The identification and classification of 41 novel mutations in the factor VIII gene (F8C). [electronic resource] by Cutler, J A Mitchell, M J Smith, M P Savidge, G F Producer: 20020321 In: Human mutation vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3331.	Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. [electronic resource] by Donaudy, Francesca Ferrara, Antonella Esposito, Laura Hertzano, Ronna Ben-David, Orit Bell, Rachel E Melchionda, Salvatore Zelante, Leopoldo Avraham, Karen B Gasparini, Paolo Producer: 20030722 In: American journal of human genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3332.	Analysis of the consequences of premature termination codons within factor VIII coding sequences. [electronic resource] by David, D Santos, I M A Johnson, K Tuddenham, E G D McVey, J H Producer: 20031008 In: Journal of thrombosis and haemostasis : JTH vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3333.	Suppression of TGA mutations in the Bacillus subtilis spoIIR gene by prfB mutations. [electronic resource] by Karow, M L Rogers, E J Lovett, P S Piggot, P J Producer: 19980904 In: Journal of bacteriology vol. 180 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3334.	Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. [electronic resource] by Ginjaar, I B Kneppers, A L v d Meulen, J D Anderson, L V Bremmer-Bout, M van Deutekom, J C Weegenaar, J den Dunnen, J T Bakker, E Producer: 20010201 In: European journal of human genetics : EJHG vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3335.	A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer. [electronic resource] by Rostagno, Philippe Gioanni, Jeanine Garino, Eliane Vallino, Pierre Namer, Moise Frenay, Marc Producer: 20031006 In: Journal of human genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3336.	SMG6 promotes endonucleolytic cleavage of nonsense mRNA in human cells. [electronic resource] by Eberle, Andrea B Lykke-Andersen, Søren Mühlemann, Oliver Jensen, Torben Heick Producer: 20090129 In: Nature structural & molecular biology vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3337.	Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation. [electronic resource] by Bernal, S Medà, C Solans, T Ayuso, C Garcia-Sandoval, B Valverde, D Del Rio, E Baiget, M Producer: 20051021 In: Clinical genetics vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3338.	Novel CFTR mutations in black cystic fibrosis patients. [electronic resource] by Feuillet-Fieux, M N Ferrec, M Gigarel, N Thuillier, L Sermet, I Steffann, J Lenoir, G Bonnefont, J P Producer: 20040617 In: Clinical genetics vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3339.	Specificity of interphase fluorescence in situ hybridization for detection of chromosome aberrations in tumor pathology. [electronic resource] by Tibiletti, M G Producer: 20050111 In: Cancer genetics and cytogenetics vol. 155 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3340.	Functional characterization of Drosophila Translin and Trax. [electronic resource] by Claussen, Maike Koch, Rafael Jin, Zhao-Yang Suter, Beat Producer: 20070131 In: Genetics vol. 174 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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