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	1401.	A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review. [electronic resource] by Pépin, Lucie Colin, Estelle Tessarech, Marine Rouleau, Stéphanie Bouhours-Nouet, Natacha Bonneau, Dominique Coutant, Régis Producer: 20200214 In: The Journal of clinical endocrinology and metabolism vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1402.	Retinal dystrophy associated with a Kizuna ( [electronic resource] by Zhao, Yue Coussa, Razek Georges DeBenedictis, Meghan J M Traboulsi, Elias I Producer: 20200610 In: Ophthalmic genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1403.	NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on. [electronic resource] by Maquat, Lynne E Producer: 20020823 In: Genes & development vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1404.	[Possibility of using fusion proteins for detection of nonsense mutations and frame-shift mutations in BRCA1 gene]. [electronic resource] by Gutkina, N I Gaĭdamakova, E K Varlakhanova, N V Kovalenko, S P Producer: 20020522 In: Molekuliarnaia genetika, mikrobiologiia i virusologiia no. 1 Availability: No items available. Save to lists Add to cart (remove)
	1405.	Gene symbol: LAMB3. Disease: junctional epidermolysis bullosa, Herlitz variant. [electronic resource] by Schneider, H Muehle, C Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	1406.	The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described. [electronic resource] by Sun, X-K Xu, A-E Chen, J-F Tang, X Producer: 20051026 In: The British journal of dermatology vol. 153 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1407.	A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome. [electronic resource] by Nitta, Hiroshi Wara-Aswapati, Nawarat Lertsirivorakul, Jinda Nakamura, Tsutomu Yamamoto, Matsuo Izumi, Yuichi Nakamura, Toshiaki Ishikawa, Isao Producer: 20050621 In: Journal of periodontology vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1408.	Novel mutations in two families with Darier's disease. [electronic resource] by Amichai, B Karpati, M Goldman, B Peleg, L Producer: 20070420 In: International journal of dermatology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1409.	Specific and non-specific purine trap in the T-loop of normal and suppressor tRNAs. [electronic resource] by Doyon, Félix R Zagryadskaya, Ekaterina I Chen, Jianhong Steinberg, Sergey V Producer: 20041027 In: Journal of molecular biology vol. 343 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1410.	Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy. [electronic resource] by Aguirre-Lamban, Jana Riveiro-Alvarez, R Cantalapiedra, D Avila-Fernandez, A Vallespin, E Villaverde-Montero, C Gomez-Dominguez, B Auz-Alexandre, C L Trujillo-Tiebas, M J Ayuso, C Producer: 20090908 In: Human genetics vol. 126 Availability: No items available. Save to lists Add to cart (remove)
	1411.	Sleep modulates hypertension in leptin-deficient obese mice. [electronic resource] by Silvani, Alessandro Bastianini, Stefano Berteotti, Chiara Franzini, Carlo Lenzi, Pierluigi Lo Martire, Viviana Zoccoli, Giovanna Producer: 20090213 In: Hypertension (Dallas, Tex. : 1979) vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1412.	Introducing sense into nonsense in treatments of human genetic diseases. [electronic resource] by Linde, Liat Kerem, Batsheva Producer: 20090226 In: Trends in genetics : TIG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1413.	Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. [electronic resource] by Maciag, Monika Płochocka, Danuta Adamowicz-Salach, Anna Burzyńska, Beata Producer: 20090921 In: British journal of haematology vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1414.	[Clinical and molecular study on Fechtner syndrome--case report and literature review]. [electronic resource] by Yang, Hai-Yan Wang, Zhao-Yue Su, Yan-Hua Cao, Li-Juan Bai, Xia Ruan, Chang-gen Producer: 20091005 In: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi vol. 28 Availability: No items available. Save to lists Add to cart (remove)
	1415.	Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy. [electronic resource] by Rocca, F E De Marco, E V Annesi, F Civitelli, D Provenzano, G Sproviero, W Scornaienchi, V Greco, V Tarantino, P Annesi, G Producer: 20110506 In: Human genetics vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1416.	A new nonsense mutation is associated with dysmorphism in lethal neonatal CPTII deficiency. [electronic resource] by McGill, Jennifer S Evans, Margaret Kirk, Jean M Lam, Wayne Munro, Michael Becher, Julie-Clare Producer: 20120927 In: Clinical dysmorphology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1417.	Healthy goats naturally devoid of prion protein. [electronic resource] by Benestad, Sylvie L Austbø, Lars Tranulis, Michael A Espenes, Arild Olsaker, Ingrid Producer: 20140602 In: Veterinary research vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1418.	Cystic fibrosis in a Hispanic adolescent. [electronic resource] by Lin, Jenny H Collaco, Joseph M Paranjape, Shruti M Producer: 20141022 In: Pediatric pulmonology vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1419.	Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features. [electronic resource] by Lozić, B Ljubković, J Pandurić, D Gabrić Saltvig, I Kutsche, K Krželj, V Zemunik, T Producer: 20141112 In: Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1420.	Mutation in FAM134B causing severe hereditary sensory neuropathy. [electronic resource] by Murphy, Sinéad M Davidson, Gabrielle L Brandner, Sebastian Houlden, Henry Reilly, Mary M Producer: 20120202 In: Journal of neurology, neurosurgery, and psychiatry vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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