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	4161.	U6 promoter-enhanced GlnUAG suppressor tRNA has higher suppression efficacy and can be stably expressed in 293 cells. [electronic resource] by Koukuntla, Ramesh Ramsey, William J Young, Won-Bin Link, Charles J Producer: 20130829 In: The journal of gene medicine vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4162.	Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. [electronic resource] by Giehl, Kathrin A Eckstein, Gertrud N Pasternack, Sandra M Praetzel-Wunder, Silke Ruzicka, Thomas Lichtner, Peter Seidl, Kerstin Rogers, Mike Graf, Elisabeth Langbein, Lutz Braun-Falco, Markus Betz, Regina C Strom, Tim M Producer: 20130317 In: American journal of human genetics vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4163.	[Hereditary pigmentary disorders: light from the East]. [electronic resource] by Dereure, O Producer: 20141124 In: Annales de dermatologie et de venereologie vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4164.	Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. [electronic resource] by Athanasoulia, Anastasia P Stalla, Günter K Auer, Matthias K Producer: 20151026 In: Hormones (Athens, Greece) vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4165.	Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. [electronic resource] by Haghighi, Alireza Tiwari, Amit Piri, Niloofar Nürnberg, Gudrun Saleh-Gohari, Nasrollah Haghighi, Amirreza Neidhardt, John Nürnberg, Peter Berger, Wolfgang Producer: 20150706 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4166.	Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. [electronic resource] by van Rahden, Vanessa A Fernandez-Vizarra, Erika Alawi, Malik Brand, Kristina Fellmann, Florence Horn, Denise Zeviani, Massimo Kutsche, Kerstin Producer: 20150529 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4167.	Intron retention: a human DKC1 gene common splicing event. [electronic resource] by Turano, Mimmo Angrisani, Alberto Di Maio, Nunzia Furia, Maria Producer: 20140606 In: Biochemistry and cell biology = Biochimie et biologie cellulaire vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4168.	Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. [electronic resource] by Tüysüz, Beyhan Yılmaz, Saliha Gül, Ece Kolb, Luis Bilguvar, Kaya Evliyaoğlu, Olcay Günel, Murat Producer: 20160415 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4169.	Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). [electronic resource] by Scheidecker, Sophie Etard, Christelle Pierce, Nathan W Geoffroy, Véronique Schaefer, Elise Muller, Jean Chennen, Kirsley Flori, Elisabeth Pelletier, Valérie Poch, Olivier Marion, Vincent Stoetzel, Corinne Strähle, Uwe Nachury, Maxence V Dollfus, Hélène Producer: 20140908 In: Journal of medical genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4170.	WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study. [electronic resource] by Yuan, J-H Hashiguchi, A Yoshimura, A Sakai, N Takahashi, M P Ueda, T Taniguchi, A Okamoto, S Kanazawa, N Yamamoto, Y Saigoh, K Kusunoki, S Ando, M Hiramatsu, Y Okamoto, Y Takashima, H Producer: 20180703 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4171.	Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing. [electronic resource] by Xia, Xiaoru Dai, Caijun Zhu, Xiaochun Liao, Qiumei Luo, Xu Fu, Yangyang Wang, Liangxing Producer: 20170712 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4172.	Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report. [electronic resource] by Agiannitopoulos, Konstantinos Papadopoulou, Eirini Tsaousis, Georgios N Pepe, Georgia Kampouri, Stavroula Kocdor, Mehmet Ali Nasioulas, George Producer: 20191202 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4173.	Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. [electronic resource] by Saviozzi, Silvia Saluto, Alessandro Piane, Maria Prudente, Sabrina Migone, Nicola DeMarchi, Mario Brusco, Alfredo Chessa, Luciana Producer: 20030418 In: Human mutation vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4174.	An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. [electronic resource] by Ozisik, Gokhan Mantovani, Giovanna Achermann, John C Persani, Luca Spada, Anna Weiss, Jeffrey Beck-Peccoz, Paolo Jameson, J Larry Producer: 20030211 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)
	4175.	Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. [electronic resource] by Ban, Kyoko Sugiyama, Kohachiro Goto, Kenji Mizutani, Fumihiko Togari, Hajime Producer: 20040218 In: The Tohoku journal of experimental medicine vol. 200 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4176.	The spectrum of growth-hormone insensitivity. [electronic resource] by Parks, J S Brown, M R Faase, M E Producer: 19970904 In: The Journal of pediatrics vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4177.	Frequency of BRCA1 and BRCA2 mutations in a clinic-based series of breast and ovarian cancer families. [electronic resource] by Vaziri, S A Krumroy, L M Rostai, M Casey, G Producer: 20010222 In: Human mutation vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4178.	Gene symbol: JAG1. Disease: Alagille syndrome. [electronic resource] by Conidi, Maria Elena Michelucci, Angela Maggiore, Giuseppe Simi, Paolo Producer: 20081024 In: Human genetics vol. 124 Availability: No items available. Save to lists Add to cart (remove)
	4179.	Oropharyngeal squamous cell carcinoma treated with radiotherapy or radiochemotherapy: prognostic role of TP53 and HPV status. [electronic resource] by Fallai, Carlo Perrone, Federica Licitra, Lisa Pilotti, Silvana Locati, Laura Bossi, Paolo Orlandi, Ester Palazzi, Mauro Olmi, Patrizia Producer: 20091113 In: International journal of radiation oncology, biology, physics vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4180.	Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. [electronic resource] by Marçais, Christophe Verges, Bruno Charrière, Sybil Pruneta, Valérie Merlin, Micheline Billon, Stéphane Perrot, Laurence Drai, Jocelyne Sassolas, Agnès Pennacchio, Len A Fruchart-Najib, Jamila Fruchart, Jean-Charles Durlach, Vincent Moulin, Philippe Producer: 20051212 In: The Journal of clinical investigation vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.