Your search returned 5852 results.

Results
	661.	W546X mutation of the thyrotropin receptor causes subclinical hypothyroidism in various clinical settings. [electronic resource] by Locantore, Pietro Evans, Carol Zhang, Lei Warner, Justin Gregory, John W John, Rhys Lazarus, John H Ludgate, Marian Producer: 20080110 In: Clinical endocrinology vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	662.	High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. [electronic resource] by Borck, G Rainshtein, L Hellman-Aharony, S Volk, A E Friedrich, K Taub, E Magal, N Kanaan, M Kubisch, C Shohat, M Basel-Vanagaite, L Producer: 20130705 In: Clinical genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	663.	CBP80-promoted mRNP rearrangements during the pioneer round of translation, nonsense-mediated mRNA decay, and thereafter. [electronic resource] by Maquat, L E Hwang, J Sato, H Tang, Y Producer: 20111003 In: Cold Spring Harbor symposia on quantitative biology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	664.	De novo mutations in moderate or severe intellectual disability. [electronic resource] by Hamdan, Fadi F Srour, Myriam Capo-Chichi, Jose-Mario Daoud, Hussein Nassif, Christina Patry, Lysanne Massicotte, Christine Ambalavanan, Amirthagowri Spiegelman, Dan Diallo, Ousmane Henrion, Edouard Dionne-Laporte, Alexandre Fougerat, Anne Pshezhetsky, Alexey V Venkateswaran, Sunita Rouleau, Guy A Michaud, Jacques L Producer: 20150630 In: PLoS genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	665.	A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1. [electronic resource] by Raza, Syed Irfan Nasser Dar, Rashid Shah, Anwar Ali Ahmad, Wasim Producer: 20150616 In: Annals of human genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	666.	New approach for fish breeding by chemical mutagenesis: establishment of TILLING method in fugu (Takifugu rubripes) with ENU mutagenesis. [electronic resource] by Kuroyanagi, Miwa Katayama, Takashi Imai, Tadashi Yamamoto, Yoshihisa Chisada, Shin-ichi Yoshiura, Yasutoshi Ushijima, Tomokazu Matsushita, Tomonao Fujita, Masashi Nozawa, Aoi Suzuki, Yuzuru Kikuchi, Kiyoshi Okamoto, Hiroyuki Producer: 20140908 In: BMC genomics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	667.	Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations. [electronic resource] by Nagel-Wolfrum, Kerstin Möller, Fabian Penner, Inessa Wolfrum, Uwe Producer: 20150514 In: Visual neuroscience vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	668.	Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families. [electronic resource] by Ijaz, Ambreen Jelani, Musharraf Panezai, Anila Rabbani, Tahmina Rasool, Iftikhar A Ahmad, Jamil Wali, Abdul Producer: 20200124 In: Congenital anomalies vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	669.	Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals. [electronic resource] by Sun, Manna Lou, Jiwu Zhao, Ying Liu, Yanhui Producer: 20181221 In: Hemoglobin vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	670.	Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report. [electronic resource] by Hu, Xijiang Liu, Dongling Jiang, Xiwen Gao, Bo Chen, Changying Producer: 20190225 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	671.	ASXL1 mutation in clonal hematopoiesis. [electronic resource] by Fujino, Takeshi Kitamura, Toshio Producer: 20200714 In: Experimental hematology vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	672.	Preimplantation diagnosis for neurofibromatosis. [electronic resource] by Verlinsky, Yury Rechitsky, Svetlana Verlinsky, Oleg Chistokhina, Anna Sharapova, Tatyana Masciangelo, Christina Levy, Michael Kaplan, Brian Lederer, Kevin Kuliev, Anver Producer: 20030529 In: Reproductive biomedicine online vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	673.	Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay. [electronic resource] by Maquat, L E Li, X Producer: 20010517 In: RNA (New York, N.Y.) vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	674.	Effect of host bacteria genotype on spontaneous reversions of Bacillus subtilis bacteriophage phi29 sus17 nonsense codon. [electronic resource] by Fucík, V Beran, J Krásný, L Jonák, J Producer: 20000307 In: FEMS microbiology letters vol. 183 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	675.	A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis. [electronic resource] by Tsai, F J Yang, C Wu, J Y Lin, H J Lee, C C Tsai, C H Producer: 20001121 In: Human mutation vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	676.	Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome. [electronic resource] by Fassone, L Corneli, G Bellone, S Camacho-Hübner, C Aimaretti, G Cappa, M Ubertini, G Bona, G Producer: 20070725 In: Journal of endocrinological investigation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	677.	[Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14]. [electronic resource] by Dereure, O Producer: 20071011 In: Annales de dermatologie et de venereologie vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	678.	Evidence that the supE44 mutation of Escherichia coli is an amber suppressor allele of glnX and that it also suppresses ochre and opal nonsense mutations. [electronic resource] by Singaravelan, B Roshini, B R Munavar, M Hussain Producer: 20101115 In: Journal of bacteriology vol. 192 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	679.	Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene. [electronic resource] by Danarti, Retno Grzeschik, Karl-Heinz Radiono, Sunardi König, Arne Happle, Rudolf Producer: 20101116 In: European journal of dermatology : EJD vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	680.	Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. [electronic resource] by Haghighi, Amirreza Razzaghy-Azar, Maryam Talea, Ali Sadeghian, Mahnaz Ellard, Sian Haghighi, Alireza Producer: 20130218 In: European journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

First
Previous
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.