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	4041.	Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report. [electronic resource] by Yamada, Kenji Ito, Michinori Kobayashi, Hironori Hasegawa, Yuki Fukuda, Seiji Yamaguchi, Seiji Taketani, Takeshi Producer: 20200106 In: Brain & development vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4042.	Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report. [electronic resource] by Niazi, Robina Khan Gjesing, Anette Prior Hollensted, Mette Have, Christian Theil Borisevich, Dmitrii Grarup, Niels Pedersen, Oluf Ullah, Asmat Shahid, Gulbin Shafqat, Ifrah Gul, Asma Hansen, Torben 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)
	4043.	Three-step site-directed mutagenesis screen identifies pathogenic [electronic resource] by Houlleberghs, Hellen Dekker, Marleen Lusseveld, Jarnick Pieters, Wietske van Ravesteyn, Thomas Verhoef, Senno Hofstra, Robert M W Te Riele, Hein Producer: 20210611 In: Journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4044.	Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes. [electronic resource] by Maekawa, M Sudo, K Kanno, T Kotani, K Dey, D C Ishikawa, J Izumi, M Etoh, K Producer: 19950912 In: Clinica chimica acta; international journal of clinical chemistry vol. 235 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4045.	Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA. [electronic resource] by Andersen, B D Lind, B Philips, M Hansen, A B Ingerslev, J Thorsen, S Producer: 19970115 In: Thrombosis and haemostasis vol. 76 Availability: No items available. Save to lists Add to cart (remove)
	4046.	Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells. [electronic resource] by Mustajoki, S Laine, M Lahtela, M Mustajoki, P Peltonen, L Kauppinen, R Producer: 20010202 In: Molecular medicine (Cambridge, Mass.) vol. 6 Availability: No items available. Save to lists Add to cart (remove)
	4047.	Correction/mutation of acid alpha-D-glucosidase gene by modified single-stranded oligonucleotides: in vitro and in vivo studies. [electronic resource] by Lu, I-L Lin, C-Y Lin, S-B Chen, S-T Yeh, L-Y Yang, F-Y Au, L-C Producer: 20031106 In: Gene therapy vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4048.	Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. [electronic resource] by Akaboshi, Shinjiro Hogema, Boris M Novelletto, Andrea Malaspina, Patrizia Salomons, Gajja S Maropoulos, George D Jakobs, Cornelis Grompe, Markus Gibson, K Michael Producer: 20040126 In: Human mutation vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4049.	A nonsense mutation in the FMO3 gene underlies fishy off-flavor in cow's milk. [electronic resource] by Lundén, Anne Marklund, Stefan Gustafsson, Victoria Andersson, Leif Producer: 20030124 In: Genome research vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4050.	Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system. [electronic resource] by Keeling, Kim M Bedwell, David M Producer: 20030129 In: Journal of molecular medicine (Berlin, Germany) vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4051.	A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient. [electronic resource] by Tran, Van Khanh Takeshima, Yasuhiro Zhang, Zhujun Habara, Yasuaki Haginoya, Kazuhiro Nishiyama, Atsushi Yagi, Mariko Matsuo, Masafumi Producer: 20070416 In: Human genetics vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4052.	Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene. [electronic resource] by Stewart, W Traynor, J P Cooke, A Griffiths, S Onen, N F Balsitis, M Shah, A A Upadhyaya, M Tobias, E S Producer: 20070913 In: Familial cancer vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4053.	Novel role for polycystin-1 in modulating cell proliferation through calcium oscillations in kidney cells. [electronic resource] by Aguiari, G Trimi, V Bogo, M Mangolini, A Szabadkai, G Pinton, P Witzgall, R Harris, P C Borea, P A Rizzuto, R del Senno, L Producer: 20080603 In: Cell proliferation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4054.	A novel EGFR nonsense mutation in a non-small-cell lung cancer (NSCLC) patient who did not derive any clinical benefit with combination chemotherapy and erlotinib. [electronic resource] by González Manzano, R Martínez Navarro, E Eugenieva, E Fernández Morejón, F J Farré, J Brugarolas, A Producer: 20081014 In: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4055.	Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia. [electronic resource] by Pfister, Markus Zalaman, Ilse M Blumenstock, Gunnar Mauz, Paul-Stefan Baumann, Ingo Producer: 20110722 In: Acta oto-laryngologica vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4056.	Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. [electronic resource] by Kaler, Stephen G Tang, Jingrong Donsante, Anthony Kaneski, Christine R Producer: 20090409 In: Annals of neurology vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4057.	Laboratory diagnosis and molecular classification of von Willebrand disease. [electronic resource] by Gadisseur, Alain Hermans, Cedric Berneman, Zwi Schroyens, Wilfried Deckmyn, Hans Michiels, Jan Jacques Producer: 20090706 In: Acta haematologica vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4058.	A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. [electronic resource] by Jonckheere, A I Hogeveen, M Nijtmans, L G J van den Brand, M A M Janssen, A J M Diepstra, J H S van den Brandt, F C A van den Heuvel, L P Hol, F A Hofste, T G J Kapusta, L Dillmann, U Shamdeen, M G Smeitink, J A M Rodenburg, R J T Producer: 20080403 In: Journal of medical genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4059.	The structure of innate vocalizations in Foxp2-deficient mouse pups. [electronic resource] by Gaub, S Groszer, M Fisher, S E Ehret, G Producer: 20110218 In: Genes, brain, and behavior vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4060.	A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants. [electronic resource] by Bremer, Sara Ohlsson, Annika Brodtkorb, Else Rootwelt, Helge Rootwelt, Terje Woldseth, Berit Mørkrid, Lars Producer: 20120228 In: Molecular genetics and metabolism vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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