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  1. 1.   An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis
  2. Sarkar,Tanmoy; Ranjan, Prashant; Kanathur, Smitha; Gupta, Ankush; Das, Parimal
  3. Molecular Genetics and Genomics : MGG. 2022, Nov 14;
  1. 2.   Chromoanasynthesis as a cause of Jacobsen syndrome
  2. Anzick, Sarah; Thurm, Audrey; Burkett,Sandra; Velez, Daniel; Cho, Elena; Chlebowski, Colby; Virtaneva, Kimmo; Bruno, Daniel; Martin, Clare B; Lang, David M; Brooks, Brian; Martens, Craig; McDermott, David H; Murphy, Philip M
  3. American journal of medical genetics. Part A. 2020, Aug 25;
  1. 3.   Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
  2. Ravell, Juan C.; Matsuda-Lennikov, Mami; Chauvin, Samuel D.; Zou, Juan; Biancalana, Matthew; Deeb, Sally J.; Price, Susan; Su, Helen C.; Notarangelo, Giulia; Jiang, Ping; Morawski, Aaron; Kanellopoulou, Chrysi; Binder, Kyle; Mukherjee, Ratnadeep; Anibal, James T.; Sellers, Brian; Zheng, Lixin; He, Tingyan; George, Alex B.; Pittaluga, Stefania; Powers, Astin; Kleiner, David E.; Kapuria, Devika; Ghany, Marc; Hunsberger, Sally; Cohen, Jeffrey I.; Uzel, Gulbu; Bergerson, Jenna; Wolfe, Lynne; Toro, Camilo; Gahl, William; Folio, Les R.; Matthews, Helen; Angelus,Pam; Chinn, Ivan K.; Orange, Jordan S.; Trujillo-Vargas, Claudia M.; Franco, Jose Luis; Orrego-Arango, Julio; Gutierrez-Hincapie, Sebastian; Patel, Niraj Chandrakant; Raymond, Kimiyo; Patiroglu, Turkan; Unal, Ekrem; Karakukcu, Musa; Day, Alexandre G. R.; Mehta, Pankaj; Masutani, Evan; De Ravin, Suk S.; Malech, Harry L.; Altan-Bonnet, Gregoire; Rao, V. Koneti; Mann, Matthias; Lenardo, Michael J.
  3. JOURNAL OF CLINICAL INVESTIGATION. 2020, Jan; 130(1): 507-522.
  1. 4.   Primary Meningeal Rhabdomyosarcoma of the Spinal Cord of a Young Dog with Neuromelanocytosis and Multiple Cutaneous Neurofibromas
  2. Hoon-Hanks, L L; Frank, C B; Edmondson, Elijah
  3. Journal of comparative pathology. 2018, Nov; 165: 57-61.
  1. 5.   Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants
  2. Ungar, Rachel A; Giri, Neelam; Pao, Maryland; Khincha, Payal P; Zhou, Weiyin; Alter, Blanche P; Savage, Sharon A
  3. American Journal of Medical Genetics. Part A. 2018, Jun; 176(6): 1432-1437.
  1. 6.   CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
  2. Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp
  3. American journal of human genetics. 2017, Sep 07; 101(3): 391-403.
  1. 7.   Characterization of feline hereditary retinal dystrophies using clinical, functional, structural and molecular genetic studies
  2. Narfstrom, K.; Raymond, M. M.; Seeliger, M.
  3. Veterinary Ophthalmology. 2011, Sep; 14: 30-36.
  1. 8.   Suppression of the C/EBP family of transcription factors in adipose tissue causes lipodystrophy
  2. Chatterjee, R.; Bhattacharya, P.; Gavrilova, O.; Glass, K.; Moitra, J.; Myakishev, M.; Pack, S.; Jou, W.; Feigenbaum, L.; Eckhaus, M.; Vinson, C.
  3. Journal of Molecular Endocrinology. 2011, Jun; 46(3): 175-192.
  1. 9.   Sodium dichloroacetate selectively targets cells with defects in the mitochondrial ETC
  2. Stockwin, L. H.; Yu, S. X.; Borgel, S.; Hancock, C.; Wolfe, T. L.; Phillips, L. R.; Hollingshead, M. G.; Newton, D. L.
  3. International Journal of Cancer. 2010, Dec; 127(11): 2510-2519.
  1. 10.   Evaluation of the effect of pyrimethamine, an anti-malarial drug, on HIV-1 replication
  2. Oguariri, R. M.; Adelsberger, J. W.; Baseler, M. W.; Imamichi, T.
  3. Virus Research. 2010, Nov; 153(2): 269-276.
  1. 11.   Wnt5a is essential for intestinal elongation in mice
  2. Cervantes, S.; Yamaguchi, T. P.; Hebrok, M.
  3. Developmental Biology. 2009 326(2): 285-294.
  1. 12.   Structure and Function of beta-1,4-Galactosyltransferase
  2. Qasba, P. K.; Ramakrishnan, B.; Boeggeman, E.
  3. Current Drug Targets. 2008 9(4): 292-309.
  1. 13.   Substrate-induced conformational changes in glycosyltransferases
  2. Qasba, P. K.; Ramakrishnan, B.; Boeggeman, E.
  3. Trends in Biochemical Sciences. 2005, JAN; 30(1): 53-62.
  1. 14.   Negative regulation of Janus kinases
  2. Duhe, R. J.; Wang, L. H.; Farrar, W. L.
  3. Cell Biochemistry and Biophysics. 2001 34(1): 17-59.
  1. 15.   What can we learn about age-related macular degeneration from other retinal diseases?
  2. Zack, D. J.; Dean, M.; Molday, R. S.; Nathans, J.; Redmond, T. M.; Stone, E. M.; Swaroop, A.; Valle, D.; Weber, B. H. F.
  3. Molecular Vision. 1999 5(24-35): NIL_37-NIL_43.
  1. 16.   Information Analysis of Human Splice Site Mutations
  2. Rogan, P. K.; Faux, B. M.; Schneider, T. D.
  3. Human Mutation. 1998 12(3): 153-171.
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