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	1581.	Tsix-Mecp2 female mouse model for Rett syndrome reveals that low-level MECP2 expression extends life and improves neuromotor function. [electronic resource] by Carrette, Lieselot L G Blum, Roy Ma, Weiyuan Kelleher, Raymond J Lee, Jeannie T Producer: 20180920 In: Proceedings of the National Academy of Sciences of the United States of America vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1582.	Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy. [electronic resource] by Cottrell, Catherine E Sommer, Annemarie Wenger, Gail D Bullard, Steven Busch, Tamara Krahn, Katherine Nash Lidral, Andrew C Gastier-Foster, Julie M Producer: 20090416 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)
	1583.	White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations. [electronic resource] by Mahmood, A Bibat, G Zhan, A-L Izbudak, I Farage, L Horska, A Mori, S Naidu, S Producer: 20100423 In: AJNR. American journal of neuroradiology vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1584.	Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. [electronic resource] by Bleyl, Steven B Byrne, Janice L B South, Sarah T Dries, David C Stevenson, David A Rope, Alan F Vianna-Morgante, Angela M Schoenwolf, Gary C Kivlin, Jane D Brothman, Arthur Carey, John C Producer: 20080116 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1585.	Generation and characterization of rat and mouse monoclonal antibodies specific for MeCP2 and their use in X-inactivation studies. [electronic resource] by Jost, K Laurence Rottach, Andrea Milden, Manuela Bertulat, Bianca Becker, Annette Wolf, Patricia Sandoval, Juan Petazzi, Paolo Huertas, Dori Esteller, Manel Kremmer, Elisabeth Leonhardt, Heinrich Cardoso, M Cristina Producer: 20120409 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1586.	Methylation-specific PCR allows for fast diagnosis of X chromosome disomy and reveals skewed inactivation of the X chromosome in men with Klinefelter syndrome. [electronic resource] by Mehta, Akanksha Malek-Jones, Matthew Bolyakov, Alexander Mielnik, Anna Schlegel, Peter N Paduch, Darius A Producer: 20130301 In: Journal of andrology vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1587.	The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints. [electronic resource] by Honda, Shozo Hayashi, Shin Nakane, Takaya Imoto, Issei Kurosawa, Kenji Mizuno, Seiji Okamoto, Nobuhiko Kato, Mitsuhiro Yoshihashi, Hiroshi Kubota, Takeo Nakagawa, Eiji Goto, Yu-Ichi Inazawa, Johji Producer: 20120924 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1588.	Signaling defects in iPSC-derived fragile X premutation neurons. [electronic resource] by Liu, Jing Koscielska, Katarzyna A Cao, Zhengyu Hulsizer, Susan Grace, Natalie Mitchell, Gaela Nacey, Catherine Githinji, Jackline McGee, Jeannine Garcia-Arocena, Dolores Hagerman, Randi J Nolta, Jan Pessah, Isaac N Hagerman, Paul J Producer: 20121214 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1589.	SLE Conundrums. [electronic resource] by Wardle, E Nigel Producer: 20100311 In: Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia vol. 21 Availability: No items available. Save to lists Add to cart (remove)
	1590.	Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy. [electronic resource] by Leroy, C Jacquemont, M-L Doray, B Lamblin, D Cormier-Daire, V Philippe, A Nusbaum, S Patrat, C Steffann, J Colleaux, L Vekemans, M Romana, S Turleau, C Malan, V Producer: 20161013 In: Clinical genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1591.	Live cell imaging of the nascent inactive X chromosome during the early differentiation process of naive ES cells towards epiblast stem cells. [electronic resource] by Guyochin, Aurélia Maenner, Sylvain Chu, Erin Tsi-Jia Hentati, Asma Attia, Mikael Avner, Philip Clerc, Philippe Producer: 20150908 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1592.	The IGSF1 deficiency syndrome: characteristics of male and female patients. [electronic resource] by Joustra, S D Schoenmakers, N Persani, L Campi, I Bonomi, M Radetti, G Beck-Peccoz, P Zhu, H Davis, T M E Sun, Y Corssmit, E P Appelman-Dijkstra, N M Heinen, C A Pereira, A M Varewijck, A J Janssen, J A M J L Endert, E Hennekam, R C Lombardi, M P Mannens, M M A M Bak, B Bernard, D J Breuning, M H Chatterjee, K Dattani, M T Oostdijk, W Biermasz, N R Wit, J M van Trotsenburg, A S P Producer: 20140414 In: The Journal of clinical endocrinology and metabolism vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1593.	Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. [electronic resource] by Fieremans, Nathalie Van Esch, Hilde Holvoet, Maureen Van Goethem, Gert Devriendt, Koenraad Rosello, Monica Mayo, Sonia Martinez, Francisco Jhangiani, Shalini Muzny, Donna M Gibbs, Richard A Lupski, James R Vermeesch, Joris R Marynen, Peter Froyen, Guy Producer: 20171215 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1594.	The nuclear matrix protein CIZ1 facilitates localization of Xist RNA to the inactive X-chromosome territory. [electronic resource] by Ridings-Figueroa, Rebeca Stewart, Emma R Nesterova, Tatyana B Coker, Heather Pintacuda, Greta Godwin, Jonathan Wilson, Rose Haslam, Aidan Lilley, Fred Ruigrok, Renate Bageghni, Sumia A Albadrani, Ghadeer Mansfield, William Roulson, Jo-An Brockdorff, Neil Ainscough, Justin F X Coverley, Dawn Producer: 20170922 In: Genes & development vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1595.	Allele-specific analysis of cell fusion-mediated pluripotent reprograming reveals distinct and predictive susceptibilities of human X-linked genes to reactivation. [electronic resource] by Cantone, Irene Dharmalingam, Gopuraja Chan, Yi-Wah Kohler, Anne-Celine Lenhard, Boris Merkenschlager, Matthias Fisher, Amanda G Producer: 20170707 In: Genome biology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1596.	Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. [electronic resource] by Frints, Suzanna G M Ozanturk, Aysegul Rodríguez Criado, Germán Grasshoff, Ute de Hoon, Bas Field, Michael Manouvrier-Hanu, Sylvie E Hickey, Scott Kammoun, Molka Gripp, Karen W Bauer, Claudia Schroeder, Christopher Toutain, Annick Mihalic Mosher, Theresa Kelly, Benjamin J White, Peter Dufke, Andreas Rentmeester, Eveline Moon, Sungjin Koboldt, Daniel C van Roozendaal, Kees E P Hu, Hao Haas, Stefan A Ropers, Hans-Hilger Murray, Lucinda Haan, Eric Shaw, Marie Carroll, Renee Friend, Kathryn Liebelt, Jan Hobson, Lynne De Rademaeker, Marjan Geraedts, Joep Fryns, Jean-Pierre Vermeesch, Joris Raynaud, Martine Riess, Olaf Gribnau, Joost Katsanis, Nicholas Devriendt, Koen Bauer, Peter Gecz, Jozef Golzio, Christelle Gontan, Cristina Kalscheuer, Vera M Producer: 20200504 In: Molecular psychiatry vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1597.	Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. [electronic resource] by Erez, Ayelet Patel, Amina J Wang, Xueqing Xia, Zhilian Bhatt, Samarth S Craigen, William Cheung, Sau Wai Lewis, Richard A Fang, Ping Davenport, Sandra L H Stankiewicz, Pawel Lalani, Seema R Producer: 20091207 In: Neurogenetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1598.	Histogenesis of sarcomatoid urothelial carcinoma of the urinary bladder: evidence for a common clonal origin with divergent differentiation. [electronic resource] by Sung, M-T Wang, M MacLennan, G T Eble, J N Tan, P-H Lopez-Beltran, A Montironi, R Harris, J J Kuhar, M Cheng, L Producer: 20070424 In: The Journal of pathology vol. 211 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1599.	Clinical features and respiratory complications in Myhre syndrome. [electronic resource] by McGowan, Ruth Gulati, Ramkumar McHenry, Pamela Cooke, Alexander Butler, Sandra Keng, Wee Teik Murday, Victoria Whiteford, Margo Dikkers, Frederik G Sikkema-Raddatz, Brigit van Essen, Ton Tolmie, John Producer: 20120111 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1600.	A novel mutation in MPL (Y252H) results in increased thrombopoietin sensitivity in essential thrombocythemia. [electronic resource] by Lambert, Michele P Jiang, Jing Batra, Vandana Wu, Chao Tong, Wei 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)

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