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	3901.	Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. [electronic resource] by Colombo, Elisa Adele Fontana, Laura Roversi, Gaia Negri, Gloria Castiglia, Daniele Paradisi, Mauro Zambruno, Giovanna Larizza, Lidia Producer: 20150625 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3902.	A Case of Subclinical Hypothyroidism with Lingual and Right Pretracheal Ectopic Thyroid. [electronic resource] by Kim, Min Sun Kong, Young Hwa Lee, Dae Yeol Producer: 20160523 In: Journal of clinical research in pediatric endocrinology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3903.	Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome. [electronic resource] by Waschk, D E J Tewes, A-C Römer, T Hucke, J Kapczuk, K Schippert, C Hillemanns, P Wieacker, P Ledig, S Producer: 20170503 In: Clinical genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3904.	Whole-Genome Sequencing Reveals Genetic Variation in the Asian House Rat. [electronic resource] by Teng, Huajing Zhang, Yaohua Shi, Chengmin Mao, Fengbiao Hou, Lingling Guo, Hongling Sun, Zhongsheng Zhang, Jianxu Producer: 20171113 In: G3 (Bethesda, Md.) vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3905.	Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation. [electronic resource] by Cabral-Macias, Jesus Zenteno, Juan C Ramirez-Miranda, Arturo Navas, Alejandro Bermudez-Magner, Jose A Boullosa-Graña, Víctor M Graue-Hernandez, Enrique O Buentello-Volante, Beatriz Producer: 20170306 In: Cornea vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3906.	[Neonatal expression of beta-thalassemia trait associated with hereditary spherocytosis in two monozygotic twins]. [electronic resource] by Ben Hamouda, H Mahjoub, B Soua, H Laradi, S Miled, A Sfar, M T Producer: 20180214 In: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3907.	Map-based cloning, identification and characterization of the w gene controlling white immature fruit color in cucumber (Cucumis sativus L.). [electronic resource] by Liu, Hanqiang Jiao, Jianqing Liang, Xinjing Liu, Jia Meng, Huanwen Chen, Shuxia Li, Yuhong Cheng, Zhihui Producer: 20170203 In: TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3908.	A truncated PPAR gamma 2 localizes to mitochondria and regulates mitochondrial respiration in brown adipocytes. [electronic resource] by Chang, Ji Suk Ha, Kyoungsoo Producer: 20180727 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3909.	Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. [electronic resource] by Faridi, Rabia Tona, Risa Brofferio, Alessandra Hoa, Michael Olszewski, Rafal Schrauwen, Isabelle Assir, Muhammad Z K Bandesha, Akhtar A Khan, Asma A Rehman, Atteeq U Brewer, Carmen Ahmed, Wasim Leal, Suzanne M Riazuddin, Sheikh Boyden, Steven E Friedman, Thomas B Producer: 20200309 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3910.	Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report. [electronic resource] by Ruan, Wen-Cong Wang, Jia Yu, Yong-Lin Che, Yue-Ping Ding, Li Li, Chen-Xi Wang, Xiao-Dong Li, Hai-Feng Producer: 20200504 In: BMC medical genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3911.	A Spontaneous RAG1 Nonsense Mutation Unveils Naturally Occurring N-Terminal Truncated RAG1 Isoforms. [electronic resource] by Burn, Thomas N Lee, Kyutae D Dawany, Noor Robertson, Tanner F Fisher, Megan R Bassing, Craig H Behrens, Edward M Producer: 20201118 In: ImmunoHorizons vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3912.	Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. [electronic resource] by Bayés, M Giordano, M Balcells, S Grinberg, D Vilageliu, L Martínez, I Ayuso, C Benítez, J Ramos-Arroyo, M A Chivelet, P Producer: 19950810 In: Human mutation vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3913.	Aberrant dimerization of von Willebrand factor as the result of mutations in the carboxy-terminal region: identification of 3 mutations in members of 3 different families with type 2A (phenotype IID) von Willebrand disease. [electronic resource] by Enayat, M S Guilliatt, A M Surdhar, G K Jenkins, P V Pasi, K J Toh, C H Williams, M D Hill, F G Producer: 20010913 In: Blood vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3914.	T-cell receptor sequences that elicit strong down-regulation of premature termination codon-bearing transcripts. [electronic resource] by Gudikote, Jayanthi P Wilkinson, Miles F Producer: 20020226 In: The EMBO journal vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3915.	Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. [electronic resource] by Ozcan, Refik Jarolim, Petr Lux, Samuel E Ungewickell, Ernst Eber, Stefan W Producer: 20031010 In: British journal of haematology vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3916.	Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. [electronic resource] by Maassen, J Antonie Tobias, Edward S Kayserilli, Hülya Tukel, Turgut Yuksel-Apak, Memnune D'Haens, Esther Kleijer, Wim J Féry, Francoise van der Zon, Gerard C M Producer: 20031010 In: The Journal of clinical endocrinology and metabolism vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3917.	Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. [electronic resource] by Gao, Hong-Zhi Kobayashi, Keiko Tabata, Ayako Tsuge, Hideaki Iijima, Mikio Yasuda, Tomotsugu Kalkanoglu, H Serap Dursun, Ali Tokatli, Aysegul Coskun, Turgay Trefz, Friedrich K Skladal, Daniela Mandel, Hanna Seidel, Joerg Kodama, Soichi Shirane, Seiko Ichida, Takafumi Makino, Shigeru Yoshino, Makoto Kang, Jong-Hon Mizuguchi, Masashi Barshop, Bruce A Fuchinoue, Shohei Seneca, Sara Zeesman, Susan Knerr, Ina Rodés, Margarita Wasant, Pornswan Yoshida, Ichiro De Meirleir, Linda Abdul Jalil, Md Begum, Laila Horiuchi, Masahisa Katunuma, Nobuhiko Nakagawa, Shiro Saheki, Takeyori Producer: 20030811 In: Human mutation vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3918.	An NMD pathway in yeast involving accelerated deadenylation and exosome-mediated 3'-->5' degradation. [electronic resource] by Mitchell, Philip Tollervey, David Producer: 20030711 In: Molecular cell vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3919.	Two point mutations identified in emmer wheat generate null Wx-A1 alleles. [electronic resource] by Saito, M Nakamura, T Producer: 20050329 In: TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3920.	An arc of unpaired "hinge bases" facilitates information exchange among functional centers of the ribosome. [electronic resource] by Rakauskaite, Rasa Dinman, Jonathan D Producer: 20061226 In: Molecular and cellular biology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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