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	4401.	Tao controls epithelial morphogenesis by promoting Fasciclin 2 endocytosis. [electronic resource] by Gomez, Juan Manuel Wang, Ying Riechmann, Veit Producer: 20130219 In: The Journal of cell biology vol. 199 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4402.	The Sweet Pee model for Sglt2 mutation. [electronic resource] by Ly, Joseph P Onay, Tuncer Sison, Karen Sivaskandarajah, Gavasker Sabbisetti, Venkata Li, Lingli Bonventre, Joseph V Flenniken, Ann Paragas, Neal Barasch, Jon M Adamson, S Lee Osborne, Lucy Rossant, Janet Schnermann, Jurgen Quaggin, Susan E Producer: 20110210 In: Journal of the American Society of Nephrology : JASN vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4403.	Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex. [electronic resource] by Scuderi, Carmela Borgione, Eugenia Castello, Filippa Lo Giudice, Mariangela Fichera, Marco Elia, Maurizio Amato, Carmelo Savio, Maria Di Blasi, Francesco Domenico Vitello, Girolamo Aurelio Romano, Salvatore DiMauro, Salvatore Musumeci, Sebastiano Antonino Producer: 20101123 In: Mitochondrion vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4404.	Novel PHEX gene mutation associated with X linked hypophosphatemic rickets. [electronic resource] by Chandran, M Chng, C L Zhao, Y Bee, Y M Phua, L Y Clarke, B L Producer: 20110203 In: Nephron. Physiology vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4405.	Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis. [electronic resource] by Wakil, Salma M Murad, Hatem N Baz, Batoul M Hagos, Samiya T Al-Amr, Rana A Al-Yamani, Suad A Al-Wadaee, Salem M Meyer, Brian F Bohlega, Saeed A Producer: 20120420 In: Neurosciences (Riyadh, Saudi Arabia) vol. 17 Availability: No items available. Save to lists Add to cart (remove)
	4406.	A novel nonsense mutation in LMNA gene identified by Exome Sequencing in an atrial fibrillation family. [electronic resource] by Zhao, Jinzhao Yao, Hong Li, Zongzhe Wang, Li Liu, Guangzong Wang, Dao W Wang, Dao Wen Liang, Zhaoguang Producer: 20170206 In: European journal of medical genetics vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4407.	PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. [electronic resource] by Zaki, Maha S Bhat, Gifty Sultan, Tipu Issa, Mahmoud Jung, Hea-Jin Dikoglu, Esra Selim, Laila G Mahmoud, Imam Abdel-Hamid, Mohamed S Abdel-Salam, Ghada Marin-Valencia, Isaac Gleeson, Joseph G Producer: 20170613 In: Annals of neurology vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4408.	Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. [electronic resource] by Jin, Su-Qin Yu, Meng Zhang, Wei Lyu, He Yuan, Yun Wang, Zhao-Xia Producer: 20170313 In: Chinese medical journal vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4409.	A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. [electronic resource] by Calvel, Pierre Kusz-Zamelczyk, Kamila Makrythanasis, Periklis Janecki, Damian Borel, Christelle Conne, Béatrice Vannier, Anne Béna, Frédérique Gimelli, Stefania Fichna, Piotr Antonarakis, Stylianos E Nef, Serge Jaruzelska, Jadwiga Producer: 20160907 In: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4410.	ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. [electronic resource] by de Majo, Martina Topp, Simon D Smith, Bradley N Nishimura, Agnes L Chen, Han-Jou Gkazi, Athina Soragia Miller, Jack Wong, Chun Hao Vance, Caroline Baas, Frank Ten Asbroek, Anneloor L M A Kenna, Kevin P Ticozzi, Nicola Redondo, Alberto Garcia Esteban-Pérez, Jesús Tiloca, Cinzia Verde, Federico Duga, Stefano Morrison, Karen E Shaw, Pamela J Kirby, Janine Turner, Martin R Talbot, Kevin Hardiman, Orla Glass, Jonathan D de Belleroche, Jacqueline Gellera, Cinzia Ratti, Antonia Al-Chalabi, Ammar Brown, Robert H Silani, Vincenzo Landers, John E Shaw, Christopher E Producer: 20190911 In: Neurobiology of aging vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4411.	CRISPR-Cas9-based mutagenesis frequently provokes on-target mRNA misregulation. [electronic resource] by Tuladhar, Rubina Yeu, Yunku Tyler Piazza, John Tan, Zhen Rene Clemenceau, Jean Wu, Xiaofeng Barrett, Quinn Herbert, Jeremiah Mathews, David H Kim, James Hyun Hwang, Tae Lum, Lawrence Producer: 20191230 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4412.	A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. [electronic resource] by McHugh, Daniel R Steele, Miarasa S Valerio, Dana M Miron, Alexander Mann, Rachel J LePage, David F Conlon, Ronald A Cotton, Calvin U Drumm, Mitchell L Hodges, Craig A Producer: 20181228 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4413.	A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis. [electronic resource] by Johnson, M R Polymeropoulos, M H Vos, H L Ortiz de Luna, R I Francomano, C A Producer: 19970227 In: Genome research vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4414.	Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. [electronic resource] by Brown, David J Kim, Theresa B Petty, Elizabeth M Downs, Catherine A Martin, Donna M Strouse, Peter J Moroi, Sayoko E Milunsky, Jeff M Lesperance, Marci M Producer: 20021011 In: American journal of human genetics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4415.	Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. [electronic resource] by Goto, Kenji Sugiyama, Kohachiro Sugiura, Tokio Ando, Toshihiro Mizutani, Fumihiko Terabe, Koji Ban, Kyoko Togari, Hajime Producer: 20030923 In: Journal of pediatric gastroenterology and nutrition vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4416.	Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach. [electronic resource] by Gigante, Maddalena Monno, Fausta Roberto, Roberta Laforgia, Nicola Assael, Maurice Barouk Livolti, Salvatore Caringella, Angela La Manna, Angela Masella, Laura Iolascon, Achille Producer: 20030327 In: Journal of nephrology vol. 15 Availability: No items available. Save to lists Add to cart (remove)
	4417.	X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. [electronic resource] by Salomons, G S van Dooren, S J Verhoeven, N M Cecil, K M Ball, W S Degrauw, T J Jakobs, C Producer: 20010705 In: American journal of human genetics vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4418.	Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention. [electronic resource] by Hayashi, Takaaki Gekka, Tamaki Omoto, Satoshi Takeuchi, Tomokazu Kitahara, Kenji Producer: 20050927 In: Ophthalmic research vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4419.	Three new alpha-thalassemia point mutations ascertained through newborn screening. [electronic resource] by Eng, Barry Patterson, Margie Walker, Lynda Hoppe, Carolyn Azimi, Mahin Lee, Helen Giordano, Piero C Waye, John S Producer: 20060829 In: Hemoglobin vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4420.	Multiple colon carcinomas in a patient with Cowden syndrome. [electronic resource] by Bosserhoff, Anja-Katrin Grussendorf-Conen, Elke-Ingrid Rübben, Albert Rudnik-Schöneborn, Sabine Zerres, Klaus Buettner, Reinhard Merkelbach-Bruse, Sabine Producer: 20061128 In: International journal of molecular medicine vol. 18 Availability: No items available. Save to lists Add to cart (remove)

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