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	3721.	GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report. [electronic resource] by Ho, Chi-Chun Tsung, Lilian Li-Yan Liu, Kam-Tim Poon, Wing-Tat Producer: 20190523 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3722.	Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. [electronic resource] by Mohamad, Janan Sarig, Ofer Godsel, Lisa M Peled, Alon Malchin, Natalia Bochner, Ron Vodo, Dan Rabinowitz, Tom Pavlovsky, Mor Taiber, Shahar Fried, Maya Eskin-Schwartz, Marina Assi, Siwar Shomron, Noam Uitto, Jouni Koetsier, Jennifer L Bergman, Reuven Green, Kathleen J Sprecher, Eli Producer: 20190610 In: The Journal of investigative dermatology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3723.	[Germline mutations in the MEN1 gene: basis for predictive genetic screening and clinical management of multiple endocrine neoplasia type 1 (MEN1) families]. [electronic resource] by Bartsch, D Kopp, I Bergenfelz, A Rieder, H Deiss, Y Münch, K Rothmund, M Simon, B Producer: 19990121 In: Deutsche medizinische Wochenschrift (1946) vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3724.	Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. [electronic resource] by Kukita, Y Furuya, H Kobayashi, T Sakai, N Hayashi, K Producer: 19990928 In: Genetic testing vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3725.	A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). [electronic resource] by Yazdani, Ahmad Chung, Daniel C Abbaszadegan, Mohammad R Al-Khayer, Kholoud Chan, Wai Man Yazdani, Milad Ghodsi, Kazem Engle, Elizabeth C Traboulsi, Elias I Producer: 20031118 In: American journal of ophthalmology vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3726.	Neurofibromatosis--Noonan's syndrome with associated rhabdomyosarcoma of the urinary bladder in an infant: case report. [electronic resource] by Agras, Pinar Isik Baskin, Esra Sakallioglu, A Ebru Arda, I Serdar Ayter, Sükriye Oguzkan, Sibel Derbent, Murat Alehan, Füsun Hicsonmez, Akgün Saatci, Umit Producer: 20030703 In: Journal of child neurology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3727.	Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons. [electronic resource] by Lamba, Jatinder Kaur Adachi, Masashi Sun, Daxi Tammur, Jaana Schuetz, Erin G Allikmets, Rando Schuetz, John D Producer: 20030801 In: Human molecular genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3728.	Molecular characterization of ionizing radiation-hypersensitive mutant M10 cells. [electronic resource] by Mori, M Itsukaichi, H Nakamura, A Sato, K Producer: 20020204 In: Mutation research vol. 487 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3729.	Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. [electronic resource] by Quélin, F Trossaërt, M Sigaud, M Mazancourt, P D E Fressinaud, E Producer: 20040917 In: Journal of thrombosis and haemostasis : JTH vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3730.	A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. [electronic resource] by Bolton-Maggs, P H B Peretz, H Butler, R Mountford, R Keeney, S Zacharski, L Zivelin, A Seligsohn, U Producer: 20050114 In: Journal of thrombosis and haemostasis : JTH vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3731.	Normal hypermutation in antibody genes from congenic mice defective for DNA polymerase iota. [electronic resource] by Martomo, Stella A Yang, William W Vaisman, Alexandra Maas, Alex Yokoi, Masayuki Hoeijmakers, Jan H Hanaoka, Fumio Woodgate, Roger Gearhart, Patricia J Producer: 20060511 In: DNA repair vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3732.	Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. [electronic resource] by Kuchar, Ladislav Ledvinová, Jana Hrebícek, Martin Mysková, Helena Dvoráková, Lenka Berná, Linda Chrastina, Petr Asfaw, Befekadu Elleder, Milan Petermöller, Margret Mayrhofer, Heidi Staudt, Martin Krägeloh-Mann, Ingeborg Paton, Barbara C Harzer, Klaus Producer: 20090617 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3733.	HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? [electronic resource] by Silveira, Leticia G Dias, Eduardo P Marinho, Bruna C G Gomez, Ricardo S De Marco, Luiz Sarquis, Marta S Producer: 20091007 In: Arquivos brasileiros de endocrinologia e metabologia vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3734.	[Destroy this (RNA) message after reading it!]. [electronic resource] by Camier, Sylvie Séraphin, Bertrand Producer: 20080131 In: Medecine sciences : M/S vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3735.	A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis. [electronic resource] by Howe, James R Chinnathambi, Sathivel Calva, Daniel Bair, Jennifer Pechman, Brenda Salamon, Agnes Tam, Beatrix Simon, László Producer: 20080429 In: Cancer genetics and cytogenetics vol. 181 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3736.	Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. [electronic resource] by Yan, J Deng, H-X Siddique, N Fecto, F Chen, W Yang, Y Liu, E Donkervoort, S Zheng, J G Shi, Y Ahmeti, K B Brooks, B Engel, W K Siddique, T Producer: 20100928 In: Neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3737.	Fibrinogen Šumperk II: dysfibrinogenemia in an individual with two coding mutations. [electronic resource] by Kotlín, Roman Suttnar, Jiří Cápová, Irena Hrachovinová, Ingrid Urbánková, Marie Dyr, Jan Evangelista Producer: 20120619 In: American journal of hematology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3738.	Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. [electronic resource] by Hammer, Monia Benhamed El Euch-Fayache, Ghada Nehdi, Houda Saidi, Dalel Nasri, Amira Nabli, Fatma Bouhlal, Yosr Maamouri-Hicheri, Wieme Hentati, Fayçal Amouri, Rim Producer: 20130423 In: Diagnostic molecular pathology : the American journal of surgical pathology, part B vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3739.	Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus. [electronic resource] by Buck, Nicole E Dashnow, Harriet Pitt, James J Wood, Leonie R Peters, Heidi L Producer: 20130215 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3740.	Wapl antagonizes cohesin binding and promotes Polycomb-group silencing in Drosophila. [electronic resource] by Cunningham, Melissa D Gause, Maria Cheng, Yuzhong Noyes, Amanda Dorsett, Dale Kennison, James A Kassis, Judith A Producer: 20130114 In: Development (Cambridge, England) vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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