Your search returned 394 results.

Results
	361.	Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. [electronic resource] by Meyer, E Kurian, M A Morgan, N V McNeill, A Pasha, S Tee, L Younis, R Norman, A van der Knaap, M S Wassmer, E Trembath, R C Brueton, L Maher, E R Producer: 20120315 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)
	362.	Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours. [electronic resource] by Agathanggelou, A Honorio, S Macartney, D P Martinez, A Dallol, A Rader, J Fullwood, P Chauhan, A Walker, R Shaw, J A Hosoe, S Lerman, M I Minna, J D Maher, E R Latif, F Producer: 20010510 In: Oncogene vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	363.	The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-kappaB signaling pathways. [electronic resource] by Lock, F E Underhill-Day, N Dunwell, T Matallanas, D Cooper, W Hesson, L Recino, A Ward, A Pavlova, T Zabarovsky, E Grant, M M Maher, E R Chalmers, A D Kolch, W Latif, F Producer: 20100820 In: Oncogene vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	364.	Rapid disease progression in a patient with mismatch repair-deficient and cortisol secreting adrenocortical carcinoma treated with pembrolizumab. [electronic resource] by Casey, R T Giger, O Seetho, I Marker, A Pitfield, D Boyle, L H Gurnell, M Shaw, A Tischkowitz, M Maher, E R Chatterjee, V K Janowitz, T Mells, G Corrie, P Challis, B G Producer: 20190211 In: Seminars in oncology vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	365.	Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). [electronic resource] by Kurian, M A Morgan, N V MacPherson, L Foster, K Peake, D Gupta, R Philip, S G Hendriksz, C Morton, J E V Kingston, H M Rosser, E M Wassmer, E Gissen, P Maher, E R Producer: 20080523 In: Neurology vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	366.	Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation. [electronic resource] by Scott, R H Douglas, J Baskcomb, L Nygren, A O Birch, J M Cole, T R Cormier-Daire, V Eastwood, D M Garcia-Minaur, S Lupunzina, P Tatton-Brown, K Bliek, J Maher, E R Rahman, N Producer: 20080312 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)
	367.	Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1alpha in clear cell renal carcinomas. [electronic resource] by Wiesener, M S Münchenhagen, P M Berger, I Morgan, N V Roigas, J Schwiertz, A Jürgensen, J S Gruber, G Maxwell, P H Löning, S A Frei, U Maher, E R Gröne, H J Eckardt, K U Producer: 20010719 In: Cancer research vol. 61 Availability: No items available. Save to lists Add to cart (remove)
	368.	Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5. [electronic resource] by Paulsen, M Davies, K R Bowden, L M Villar, A J Franck, O Fuermann, M Dean, W L Moore, T F Rodrigues, N Davies, K E Hu, R J Feinberg, A P Maher, E R Reik, W Walter, J Producer: 19990112 In: Human molecular genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	369.	FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. [electronic resource] by Fantes, J A Boland, E Ramsay, J Donnai, D Splitt, M Goodship, J A Stewart, H Whiteford, M Gautier, P Harewood, L Holloway, S Sharkey, F Maher, E van Heyningen, V Clayton-Smith, J Fitzpatrick, D R Black, G C M Producer: 20080513 In: American journal of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	370.	A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. [electronic resource] by Morgan, N V Bacchelli, C Gissen, P Morton, J Ferrero, G B Silengo, M Labrune, P Casteels, I Hall, C Cox, P Kelly, D A Trembath, R C Scambler, P J Maher, E R Goodman, F R Johnson, C A Producer: 20030707 In: Journal of medical genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	371.	Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only. [electronic resource] by Hes, F J McKee, S Taphoorn, M J Rehal, P van Der Luijt, R B McMahon, R van Der Smagt, J J Dow, D Zewald, R A Whittaker, J Lips, C J MacDonald, F Pearson, P L Maher, E R Producer: 20010125 In: Journal of medical genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	372.	Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. [electronic resource] by Goobie, S Knijnenburg, J Fitzpatrick, D Sharkey, F H Lionel, A C Marshall, C R Azam, T Shago, M Chong, K Mendoza-Londono, R den Hollander, N S Ruivenkamp, C Maher, E Tanke, H J Szuhai, K Wintle, R F Scherer, S W Producer: 20090327 In: Cytogenetic and genome research vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	373.	Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels. [electronic resource] by Hussain, K Cosgrove, K E Shepherd, R M Luharia, A Smith, V V Kassem, S Gregory, J W Sivaprasadarao, A Christesen, H T Jacobsen, B B Brusgaard, K Glaser, B Maher, E A Lindley, K J Hindmarsh, P Dattani, M Dunne, M J Producer: 20050809 In: The Journal of clinical endocrinology and metabolism vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	374.	A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. [electronic resource] by Smilinich, N J Day, C D Fitzpatrick, G V Caldwell, G M Lossie, A C Cooper, P R Smallwood, A C Joyce, J A Schofield, P N Reik, W Nicholls, R D Weksberg, R Driscoll, D J Maher, E R Shows, T B Higgins, M J Producer: 19990826 In: Proceedings of the National Academy of Sciences of the United States of America vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	375.	A 12 country field study of the EORTC QLQ-C30 (version 3.0) and the head and neck cancer specific module (EORTC QLQ-H&N35) in head and neck patients. EORTC Quality of Life Group. [electronic resource] by Bjordal, K de Graeff, A Fayers, P M Hammerlid, E van Pottelsberghe, C Curran, D Ahlner-Elmqvist, M Maher, E J Meyza, J W Brédart, A Söderholm, A L Arraras, J J Feine, J S Abendstein, H Morton, R P Pignon, T Huguenin, P Bottomly, A Kaasa, S Producer: 20001212 In: European journal of cancer (Oxford, England : 1990) vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	376.	Epigenotype-phenotype correlations in Silver-Russell syndrome. [electronic resource] by Wakeling, E L Amero, S Abu Alders, M Bliek, J Forsythe, E Kumar, S Lim, D H MacDonald, F Mackay, D J Maher, E R Moore, G E Poole, R L Price, S M Tangeraas, T Turner, C L S Van Haelst, M M Willoughby, C Temple, I K Cobben, J M Producer: 20110302 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	377.	Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. [electronic resource] by Dallosso, A R Dolwani, S Jones, N Jones, S Colley, J Maynard, J Idziaszczyk, S Humphreys, V Arnold, J Donaldson, A Eccles, D Ellis, A Evans, D G Frayling, I M Hes, F J Houlston, R S Maher, E R Nielsen, M Parry, S Tyler, E Moskvina, V Cheadle, J P Sampson, J R Producer: 20080904 In: Gut vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	378.	Familial gastric cancer: overview and guidelines for management. [electronic resource] by Caldas, C Carneiro, F Lynch, H T Yokota, J Wiesner, G L Powell, S M Lewis, F R Huntsman, D G Pharoah, P D Jankowski, J A MacLeod, P Vogelsang, H Keller, G Park, K G Richards, F M Maher, E R Gayther, S A Oliveira, C Grehan, N Wight, D Seruca, R Roviello, F Ponder, B A Jackson, C E Producer: 20000107 In: Journal of medical genetics vol. 36 Availability: No items available. Save to lists Add to cart (remove)
	379.	Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. [electronic resource] by Zbar, B Kishida, T Chen, F Schmidt, L Maher, E R Richards, F M Crossey, P A Webster, A R Affara, N A Ferguson-Smith, M A Brauch, H Glavac, D Neumann, H P Tisherman, S Mulvihill, J J Gross, D J Shuin, T Whaley, J Seizinger, B Kley, N Olschwang, S Boisson, C Richard, S Lips, C H Lerman, M Producer: 19970328 In: Human mutation vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	380.	Direct Measurement of Nuclear Dependence of Charged Current Quasielasticlike Neutrino Interactions Using MINERvA. [electronic resource] by Betancourt, M Ghosh, A Walton, T Altinok, O Bellantoni, L Bercellie, A Bodek, A Bravar, A Cai, T Martinez Caicedo, D A Carneiro, M F Dytman, S A Díaz, G A Felix, J Fields, L Fine, R Galindo, R Gallagher, H Ghosh, A Golan, T Gran, R Harris, D A Higuera, A Hurtado, K Kiveni, M Kleykamp, J Le, T Maher, E Manly, S Mann, W A Marshall, C M McFarland, K S McGivern, C L McGowan, A M Messerly, B Miller, J Mislivec, A Morfín, J G Mousseau, J Naples, D Nelson, J K Norrick, A Patrick, C E Perdue, G N Ramírez, M A Ren, L Rimal, D Rodrigues, P A Ruterbories, D Schellman, H Sobczyk, J T Solano Salinas, C J Sánchez Falero, S Valencia, E Wolcott, J Wospakrik, M Yaeggy, B Producer: 20180205 In: Physical review letters vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 394 results.