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	1541.	Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome. [electronic resource] by Mahamid, Jamal Lorber, Avraham Horovitz, Yoseph Shalev, Stavit A Collin, Gayle B Naggert, Jürgen K Marshall, Jan D Spiegel, Ronen Producer: 20130813 In: Pediatric cardiology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1542.	Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. [electronic resource] by Schuster, Beatrice Knies, Kerstin Stoepker, Chantal Velleuer, Eunike Friedl, Richard Gottwald-Mühlhauser, Birgit de Winter, Johan P Schindler, Detlev Producer: 20130701 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1543.	A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA. [electronic resource] by Grahn, Robert A Ellis, Melanie R Grahn, Jennifer C Lyons, Leslie A Producer: 20121224 In: Journal of feline medicine and surgery vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1544.	Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. [electronic resource] by Elsayed, Solaf M Heller, Raoul Thoenes, Michaela Zaki, Maha S Swan, Daniel Elsobky, Ezzat Zühlke, Christine Ebermann, Inga Nürnberg, Gudrun Nürnberg, Peter Bolz, Hanno J Producer: 20150120 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)
	1545.	Infertility associated with meiotic failure in the tremor rat (tm/tm) is caused by the deletion of spermatogenesis associated 22. [electronic resource] by Ishishita, Satoshi Inui, Toshihide Matsuda, Yoichi Serikawa, Tadao Kitada, Kazuhiro Producer: 20140129 In: Experimental animals vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1546.	A novel ApoA-I truncation (ApoA-IMytilene) associated with decreased ApoA-I production. [electronic resource] by Anthanont, Pimjai Polisecki, Eliana Asztalos, Bela F Diffenderfer, Margaret R Barrett, P Hugh R Millar, John S Billheimer, Jeffrey Cuchel, Marina Rader, Daniel J Schaefer, Ernst J Producer: 20150330 In: Atherosclerosis vol. 235 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1547.	Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene. [electronic resource] by Eisenkraft, Arik Pode-Shakked, Ben Goldstein, Nurit Shpirer, Zvi van Bokhoven, Hans Anikster, Yair Producer: 20160831 In: Fetal and pediatric pathology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1548.	A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses. [electronic resource] by Ducro, Bart J Schurink, Anouk Bastiaansen, John W M Boegheim, Iris J M van Steenbeek, Frank G Vos-Loohuis, Manon Nijman, Isaac J Monroe, Glen R Hellinga, Ids Dibbits, Bert W Back, Willem Leegwater, Peter A J Producer: 20160622 In: BMC genomics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1549.	Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism. [electronic resource] by Cangul, Hakan Boelaert, Kristien Dogan, Murat Saglam, Yaman Kendall, Michaela Barrett, Timothy G Maher, Eamonn R Producer: 20141009 In: Endocrine vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1550.	Alleles of the LAN blood group system: molecular and serologic investigations. [electronic resource] by Reid, Marion E Hue-Roye, Kim Huang, Angela Velliquette, Randall W Tani, Yoshihiko Westhoff, Connie M Lomas-Francis, Christine Zelinski, Teresa Producer: 20140407 In: Transfusion vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1551.	Bladder cancer: STAG2 in the spotlight--have genomic studies identified a plausible biomarker? [electronic resource] by Razzak, Mina Producer: 20140826 In: Nature reviews. Urology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1552.	A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). [electronic resource] by Drögemüller, Michaela Jagannathan, Vidhya Howard, Judith Bruggmann, Rémy Drögemüller, Cord Ruetten, Maja Leeb, Tosso Kook, Peter H Producer: 20150330 In: Animal genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1553.	Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). [electronic resource] by Monroe, Glen R Kappen, Isabelle Fpm Stokman, Marijn F Terhal, Paulien A van den Boogaard, Marie-José H Savelberg, Sanne Mc van der Veken, Lars T van Es, Robert Jj Lens, Susanne M Hengeveld, Rutger C Creton, Marijn A Janssen, Nard G Mink van der Molen, Aebele B Ebbeling, Michelle B Giles, Rachel H Knoers, Nine V van Haaften, Gijs Producer: 20170711 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1554.	A novel MKRN3 nonsense mutation causing familial central precocious puberty. [electronic resource] by Christoforidis, Athanasios Skordis, Nicos Fanis, Pavlos Dimitriadou, Meropi Sevastidou, Maria Phelan, Marie M Neocleous, Vassos Phylactou, Leonidas A Producer: 20180508 In: Endocrine vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1555.	A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. [electronic resource] by Aberdein, Danielle Munday, John S Gandolfi, Barbara Dittmer, Keren E Malik, Richard Garrick, Dorian J Lyons, Leslie A Producer: 20180102 In: Mammalian genome : official journal of the International Mammalian Genome Society vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1556.	Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4. [electronic resource] by Tóth, Lola Fábos, Beáta Farkas, Katalin Sulák, Adrienn Tripolszki, Kornélia Széll, Márta Nagy, Nikoletta Producer: 20170518 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1557.	Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene. [electronic resource] by Luo, Xiao-Yan Li, Qiu Tan, Qi Yang, Huan Xiang, Juan Miao, Jing-Kun Wang, Hua Producer: 20170627 In: The Journal of dermatology vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1558.	Macrodactyly in tuberous sclerosis complex: Case report and review of the literature. [electronic resource] by Soeiro E Sá, Mariana Moldovan, Oana Sousa, Ana Berta Producer: 20171023 In: American journal of medical genetics. Part A vol. 170 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1559.	Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish. [electronic resource] by Krall, Max Htun, Stephanie Slavotinek, Anne Producer: 20191223 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1560.	Autosomal-dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in-frame DSP nonsense mutation. [electronic resource] by Singh, Sajya M Casey, Susan A Berg, Allison A Abdelhadi, Raed H Katsiyiannis, William T Bennett, Mosi K Mackey-Bojack, Shannon Duncanson, Emily R Sengupta, Jay D Producer: 20190520 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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