Your search returned 5852 results.

Results
	3381.	Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma. [electronic resource] by Wu, Jian Kong, Mingxiang Bi, Qing Producer: 20160725 In: Journal of neuro-oncology vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3382.	Genetic screening in Iranian patients with retinoblastoma. [electronic resource] by Shahraki, K Ahani, A Sharma, P Faranoush, M Bahoush, G Torktaz, I Gahl, W A Naseripour, M Behnam, B Producer: 20180201 In: Eye (London, England) vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3383.	Phenotype and genotype comparisons in carriers of haemophilia A. [electronic resource] by Olsson, A Ljung, R Hellgren, M Berntorp, E Baghaei, F Producer: 20170216 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3384.	Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth. [electronic resource] by Sahlin, Ellika Gréen, Anna Gustavsson, Peter Liedén, Agne Nordenskjöld, Magnus Papadogiannakis, Nikos Pettersson, Karin Nilsson, Daniel Jonasson, Jon Iwarsson, Erik Producer: 20190930 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3385.	THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME. [electronic resource] by Bahsi, T Unal, A Bakir, A Perçin, E F Producer: 20181016 In: Genetic counseling (Geneva, Switzerland) vol. 27 Availability: No items available. Save to lists Add to cart (remove)
	3386.	A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes. [electronic resource] by Akiba, K Ushijima, K Fukami, M Hasegawa, Y Producer: 20211101 In: Diabetic medicine : a journal of the British Diabetic Association vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3387.	Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome. [electronic resource] by Shang, Shunlai Peng, Fei Wang, Tao Wu, Xiaoyuan Li, Ping Li, Qinggang Chen, Xiang M Producer: 20200715 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3388.	Characterization of Unique Lens Morphology in a Cohort of Children with Familial Exudative Vitreoretinopathy. [electronic resource] by Qi, Dongmei Liu, Sha Yu, Tao Producer: 20211015 In: Current eye research vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3389.	Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. [electronic resource] by Clancy, J P Bebök, Z Ruiz, F King, C Jones, J Walker, L Greer, H Hong, J Wing, L Macaluso, M Lyrene, R Sorscher, E J Bedwell, D M Producer: 20010802 In: American journal of respiratory and critical care medicine vol. 163 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3390.	A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene. [electronic resource] by Iida, H Ishii, E Nakahara, M Urata, M Wakiyama, M Kurihara, M Watanabe, K Kai, T Ihara, K Kinoshita, S Hamasaki, N Producer: 20010202 In: Thrombosis and haemostasis vol. 84 Availability: No items available. Save to lists Add to cart (remove)
	3391.	The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease. [electronic resource] by Clee, S M Loubser, O Collins, J Kastelein, J J Hayden, M R Producer: 20020109 In: Clinical genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3392.	A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. [electronic resource] by Sakimoto, Tohru Kanno, Hitoshi Shoji, Jun Kashima, Yoji Nakagawa, Shigeki Miwa, Shiro Sawa, Mitsuru Producer: 20030318 In: Japanese journal of ophthalmology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3393.	Trophectoderm development and function: the roles of Na+/K(+)-ATPase subunit isoforms. [electronic resource] by Kidder, Gerald M Producer: 20021018 In: Canadian journal of physiology and pharmacology vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3394.	A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex. [electronic resource] by Gu, Li-Hong Ichiki, Yoshiro Sato, Miki Kitajima, Yasuo Producer: 20020521 In: The Journal of dermatology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3395.	Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia. [electronic resource] by Matsson, H Klar, J Draptchinskaia, N Gustavsson, P Carlsson, B Bowers, D de Bont, E Dahl, N Producer: 20000106 In: Human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3396.	Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese. [electronic resource] by Tso, A W K Rong, R Lo, C Y Tan, K C B Tiu, S C Wat, N M S Xu, J Y Villablanca, A Larsson, C Teh, B T Lam, K S L Producer: 20031007 In: Clinical endocrinology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3397.	NKp30 (NCR3) is a pseudogene in 12 inbred and wild mouse strains, but an expressed gene in Mus caroli. [electronic resource] by Hollyoake, Martine Campbell, R Duncan Aguado, Begoña Producer: 20051209 In: Molecular biology and evolution vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3398.	Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. [electronic resource] by Deburgrave, Nathalie Daoud, Fatma Llense, Stéphane Barbot, Jean Claude Récan, Dominique Peccate, Cécile Burghes, Arthur H M Béroud, Christophe Garcia, Luis Kaplan, Jean-Claude Chelly, Jamel Leturcq, France Producer: 20070228 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3399.	Complicated RNA splicing of chicken telomerase reverse transcriptase revealed by profiling cells both positive and negative for telomerase activity. [electronic resource] by Chang, Hong Delany, Mary E Producer: 20061109 In: Gene vol. 379 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3400.	Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. [electronic resource] by Vilchez, Juan J Gallano, Pia Gallardo, Eduard Lasa, Adriana Rojas-García, Ricardo Freixas, Alba De Luna, Noemí Calafell, Francesc Sevilla, Teresa Mayordomo, Fernando Baiget, Montserrat Illa, Isabel Producer: 20050908 In: Archives of neurology vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.