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	5261.	Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. [electronic resource] by Wallace, Dana J Chau, Felix Y Santiago-Turla, Cecilia Hauser, Michael Challa, Pratap Lee, Paul P Herndon, Leon W Allingham, R Rand Producer: 20151208 In: Molecular vision vol. 20 Availability: No items available. Save to lists Add to cart (remove)
	5262.	Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients. [electronic resource] by Amaral, M D Producer: 20150501 In: Journal of internal medicine vol. 277 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5263.	CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. [electronic resource] by Saunders, Carol Smith, Laurie Wibrand, Flemming Ravn, Kirstine Bross, Peter Thiffault, Isabelle Christensen, Mette Atherton, Andrea Farrow, Emily Miller, Neil Kingsmore, Stephen F Ostergaard, Elsebet Producer: 20150409 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5264.	Eukaryotic initiation factor 4G suppresses nonsense-mediated mRNA decay by two genetically separable mechanisms. [electronic resource] by Joncourt, Raphael Eberle, Andrea B Rufener, Simone C Mühlemann, Oliver Producer: 20150511 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5265.	Acquired Flucytosine Resistance during Combination Therapy with Caspofungin and Flucytosine for Candida glabrata Cystitis. [electronic resource] by Charlier, Caroline El Sissy, Carine Bachelier-Bassi, Sophie Scemla, Anne Quesne, Gilles Sitterlé, Emilie Legendre, Christophe Lortholary, Olivier Bougnoux, Marie-Elisabeth Producer: 20160929 In: Antimicrobial agents and chemotherapy vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5266.	Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families. [electronic resource] by Rahman, Simeen Ber Mir, Asif Ahmad, Nafees Haider, Syed Husnain Malik, Salman Akbar Nasir, Muhammad Producer: 20190829 In: Congenital anomalies vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5267.	Intellectual Disability in K [electronic resource] by Svalastoga, Pernille Sulen, Åsta Fehn, Jarle R Aukland, Stein M Irgens, Henrik Sirnes, Eivind Fevang, Silje K E Valen, Eivind Elgen, Irene B Njølstad, Pål R Producer: 20201201 In: Diabetes care vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5268.	Parkin truncating variants result in a loss-of-function phenotype. [electronic resource] by Santos, Mariana Morais, Sara Pereira, Conceição Sequeiros, Jorge Alonso, Isabel Producer: 20201102 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5269.	Antisense oligonucleotides against protein kinase CK2-alpha inhibit growth of squamous cell carcinoma of the head and neck in vitro. [electronic resource] by Faust, R A Tawfic, S Davis, A T Bubash, L A Ahmed, K Producer: 20000809 In: Head & neck vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5270.	Spontaneous mutations in the CsrRS two-component regulatory system of Streptococcus pyogenes result in enhanced virulence in a murine model of skin and soft tissue infection. [electronic resource] by Engleberg, N C Heath, A Miller, A Rivera, C DiRita, V J Producer: 20010510 In: The Journal of infectious diseases vol. 183 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5271.	The whn transcription factor encoded by the nude locus contains an evolutionarily conserved and functionally indispensable activation domain. [electronic resource] by Schüddekopf, K Schorpp, M Boehm, T Producer: 19961024 In: Proceedings of the National Academy of Sciences of the United States of America vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5272.	Truncation mutation in HRG4 (UNC119) leads to mitochondrial ANT-1-mediated photoreceptor synaptic and retinal degeneration by apoptosis. [electronic resource] by Mori, Naoki Ishiba, Yasutsugu Kubota, Shinya Kobayashi, Akira Higashide, Tomomi McLaren, Margaret J Inana, George Producer: 20060427 In: Investigative ophthalmology & visual science vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5273.	Molecular pathology of thalassemia intermedia. [electronic resource] by Beris, Photis Deutsch, Samuel Darbellay, Régis Producer: 20041109 In: The hematology journal : the official journal of the European Haematology Association vol. 5 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5274.	Genetic and epigenetic changes in the APC gene in sporadic colorectal carcinoma with synchronous adenoma. [electronic resource] by Kim, Jin C Koo, Kum H Roh, Seon A Cho, Yong K Kim, Hee C Yu, Chang S Kim, Ho J Kim, Jung S Cho, Moon K Producer: 20030807 In: International journal of colorectal disease vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5275.	Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. [electronic resource] by Malan, Valérie Rajan, Diana Thomas, Sophie Shaw, Adam C Louis Dit Picard, Hélène Layet, Valérie Till, Marianne van Haeringen, Arie Mortier, Geert Nampoothiri, Sheela Puseljić, Silvija Legeai-Mallet, Laurence Carter, Nigel P Vekemans, Michel Munnich, Arnold Hennekam, Raoul C Colleaux, Laurence Cormier-Daire, Valérie Producer: 20100901 In: American journal of human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5276.	TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. [electronic resource] by Hanein, Sylvain Perrault, Isabelle Roche, Olivier Gerber, Sylvie Khadom, Noman Rio, Marlene Boddaert, Nathalie Jean-Pierre, Marc Brahimi, Nora Serre, Valérie Chretien, Dominique Delphin, Nathalie Fares-Taie, Lucas Lachheb, Sahran Rotig, Agnès Meire, Françoise Munnich, Arnold Dufier, Jean-Louis Kaplan, Josseline Rozet, Jean-Michel Producer: 20090424 In: American journal of human genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5277.	Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. [electronic resource] by Michiels, Jan Jacques Berneman, Zwi Gadisseur, Alain van der Planken, Marc Schroyens, Wilfried van Vliet, Huub H D M Producer: 20090706 In: Acta haematologica vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5278.	TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. [electronic resource] by Gianetti, Elena Tusset, Cintia Noel, Sekoni D Au, Margaret G Dwyer, Andrew A Hughes, Virginia A Abreu, Ana Paula Carroll, Jessica Trarbach, Ericka Silveira, Leticia F G Costa, Elaine M F de Mendonça, Berenice Bilharinho de Castro, Margaret Lofrano, Adriana Hall, Janet E Bolu, Erol Ozata, Metin Quinton, Richard Amory, John K Stewart, Susan E Arlt, Wiebke Cole, Trevor R Crowley, William F Kaiser, Ursula B Latronico, Ana Claudia Seminara, Stephanie B Producer: 20100701 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)
	5279.	Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. [electronic resource] by Yan, Denise Ouyang, Xiaomei Patterson, D Michael Du, Li Lin Jacobson, Samuel G Liu, Xue-Zhong Producer: 20100507 In: Journal of human genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5280.	Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. [electronic resource] by Guziewicz, Karina E Zangerl, Barbara Lindauer, Sarah J Mullins, Robert F Sandmeyer, Lynne S Grahn, Bruce H Stone, Edwin M Acland, Gregory M Aguirre, Gustavo D Producer: 20070613 In: Investigative ophthalmology & visual science vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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