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	601.	Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation. [electronic resource] by Ekinci, Zelal Karabaş, Levent Konrad, Martin Producer: 20120814 In: The Turkish journal of pediatrics vol. 54 Availability: No items available. Save to lists Add to cart (remove)
	602.	Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia. [electronic resource] by Ropero, Paloma Villegas, Ana Nieto, Jorge M González, Fernando A Martínez, Rafael Producer: 20190124 In: Clinical biochemistry vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	603.	A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. [electronic resource] by Beauregard-Lacroix, Eliane Salian, Smrithi Kim, Hyunyun Ehresmann, Sophie DʹAmours, Guylaine Gauthier, Julie Saillour, Virginie Bernard, Geneviève Mitchell, Grant A Soucy, Jean-François Michaud, Jacques L Campeau, Philippe M Producer: 20210430 In: European journal of human genetics : EJHG vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	604.	Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization. [electronic resource] by Bolfa, Pompei Wang, Ping Nair, Rajeev Rajeev, Sreekumari Armien, Anibal G Henthorn, Paula S Wood, Tim Thrall, Mary Anna Giger, Urs Producer: 20200430 In: Molecular genetics and metabolism vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	605.	The power of point mutations. [electronic resource] by Maquat, L E Producer: 20010201 In: Nature genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	606.	A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease. [electronic resource] by Deschauer, M Opalka, J R Lindner, A Zierz, S Producer: 20020313 In: Molecular genetics and metabolism vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	607.	Yeast polypeptide chain release factors eRF1 and eRF3 are involved in cytoskeleton organization and cell cycle regulation. [electronic resource] by Valouev, Igor A Kushnirov, Vitaly V Ter-Avanesyan, Michael D Producer: 20030318 In: Cell motility and the cytoskeleton vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	608.	Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation. [electronic resource] by McDermott, David F Gammon, Bryan Snijders, Peter J Mbata, Ihunanya Phifer, Beth Howland Hartley, A Lee, Chyi-Chia Richard Murphy, Philip M Hwang, Sam T Producer: 20091211 In: Pediatric dermatology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	609.	Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. [electronic resource] by Loren, David J Campos, Yvan d'Azzo, Alessandra Wyble, Lance Grange, Dorothy K Gilbert-Barness, Enid White, Frances V Hamvas, Aaron Producer: 20051206 In: Journal of perinatology : official journal of the California Perinatal Association vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	610.	A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. [electronic resource] by Dagnino, Monica Caridi, Gianluca Aydin, Zeki Ozturk, Savas Karaali, Zeynep Kazancioglu, Rumeyza Cefle, Kivanc Gursu, Meltem Campagnoli, Monica Galliano, Monica Minchiotti, Lorenzo Producer: 20110106 In: Clinica chimica acta; international journal of clinical chemistry vol. 411 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	611.	A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. [electronic resource] by Bisulli, Francesca Tinuper, Paolo Scudellaro, Eva Naldi, Ilaria Bagattin, Alessia Avoni, Patrizia Michelucci, Roberto Nobile, Carlo Producer: 20041006 In: Annals of neurology vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	612.	Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. [electronic resource] by Kanae, Y Endoh, D Yamato, O Hayashi, D Matsunaga, S Ogawa, H Maede, Y Hayashi, M Producer: 20070301 In: Research in veterinary science vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	613.	Gene symbol: APC. Disease: colorectal cancer. [electronic resource] by Tan, L P Ng, B K Balraj, P Poh, B H Lim, P K C Peh, S C Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	614.	Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy. [electronic resource] by Zingman, L V Park, S Olson, T M Alekseev, A E Terzic, A Producer: 20070117 In: Clinical pharmacology and therapeutics vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	615.	Gene expansion in Trichomonas vaginalis: a case study on transmembrane cyclases. [electronic resource] by Cui, Jike Smith, Temple F Samuelson, John Producer: 20080805 In: Genome informatics. International Conference on Genome Informatics vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	616.	The effect of B specific restriction and modification of DNA on linkage relationships in f1 bacteriophage. I. Studies on the mechanism of B restriction in vivo. [electronic resource] by Hartman, N Zinder, N D Producer: 20111107 In: Journal of molecular biology vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	617.	Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling. [electronic resource] by Ogur, G Zenker, M Tosun, M Ekici, F Schanze, D Ozyilmaz, B Malatyalioglu, E Producer: 20111123 In: Genetic counseling (Geneva, Switzerland) vol. 22 Availability: No items available. Save to lists Add to cart (remove)
	618.	A novel nonsense mutation of the EPM2A gene in northwest Greece causing myoclonic epilepsy. [electronic resource] by Chatzistefanidis, Dimitrios Giaka, Katerina Georgiou, Ioannis Kyritsis, Athanassios P Markoula, Sofia Producer: 20140120 In: Seizure vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	619.	Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. [electronic resource] by Demirbilek, Huseyin Ozbek, M Nuri Demir, Korcan Kotan, L Damla Cesur, Yasar Dogan, Murat Temiz, Fatih Mengen, Eda Gurbuz, Fatih Yuksel, Bilgin Topaloglu, A Kemal Producer: 20151221 In: Clinical endocrinology vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	620.	Functional characterization of genetic enzyme variations in human lipoxygenases. [electronic resource] by Horn, Thomas Reddy Kakularam, Kumar Anton, Monika Richter, Constanze Reddanna, Pallu Kuhn, Hartmut Producer: 20150513 In: Redox biology vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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