Deep Blue: Browsing by Title

Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma

Smith, Joshua D.; Birkeland, Andrew C.; Rosko, Andrew J.; Hoesli, Rebecca C.; Foltin, Susan K.; Swiecicki, Paul; Mierzwa, Michelle; Chinn, Steven B.; Shuman, Andrew G.; Malloy, Kelly M.; Casper, Keith A.; McLean, Scott A.; Wolf, Gregory T.; Bradford, Carol R.; Prince, Mark E.; Brenner, John Chad; Spector, Matthew E. (Wiley Periodicals, Inc., 2019-02)

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Mutational spectrum of FAM83H : the C-terminal portion is required for tooth enamel calcification Communicated by Mark H. Paalman

Lee, Sook-Kyung; Hu, Jan C-C.; Bartlett, John D.; Lee, Kyung-Eun; Lin, Brent P-J.; Simmer, James P.; Kim, Jung-Wook (Wiley Subscription Services, Inc., A Wiley Company, 2008-08)

(148.3KB)

Mutations in KCND3 cause spinocerebellar ataxia type 22

Lee, Yi‐chung; Durr, Alexandra; Majczenko, Karen; Huang, Yen‐hua; Liu, Yu‐chao; Lien, Cheng‐chang; Tsai, Pei‐chien; Ichikawa, Yaeko; Goto, Jun; Monin, Marie‐lorraine; Li, Jun Z.; Chung, Ming‐yi; Mundwiller, Emeline; Shakkottai, Vikram; Liu, Tze‐tze; Tesson, Christelle; Lu, Yi‐chun; Brice, Alexis; Tsuji, Shoji; Burmeister, Margit; Stevanin, Giovanni; Soong, Bing‐wen (Wiley Subscription Services, Inc., A Wiley Company, 2012-12)

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Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura

Levy, G. G.; Nichols, William C.; Lian, E. C.; Foroud, Tatiana; McClintick, J. N.; McGee, B. M.; Yang, Angela Y.; Siemieniak, David R.; Stark, K. R.; Gruppo, R.; Sarode, R.; Shurin, S. B.; Chandrasekaran, V.; Stabler, S. P.; Sabio, H.; Bouhassira, E. E.; Upshaw, J. D.; Ginsburg, David W.; Tsai, H. M. (Macmillan Publishers Ltd., 2001-10-04)

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Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM)

Modi, Bhavi P.; Teves, Maria E.; Pearson, Laurel N.; Parikh, Hardik I.; Haymond‐thornburg, Hannah; Tucker, John L.; Chaemsaithong, Piya; Gomez‐lopez, Nardhy; York, Timothy P.; Romero, Roberto; Strauss, Jerome F. (Wiley Periodicals, Inc.National Academy Press, 2017-11)

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Mutations in Inversin cause Nephronophthisis Type 2, linking Cystic Kidney Disease to the Function of Primary Cilia and Left-Right Axis Determination

Otto, EA; Schermer, B; Obara, T; O'Toole, JF; Hiller, KS; Mueller, AM; Beekmann, F; Hoefele, J; Landau, D; Foreman, JW; Goodship, JA; Strachan, T; Kispert, A; Wolf, MT; Gagnadoux, MF; Nivet, H; Antignac, C; Walz, G; Drummond, IA; Benzing, T; Hildebrandt, F (Springer Nature, 2003-08-01)

(1.5MB)

Mutations in PI(3,5)P2 Signaling and Neurodegeneration in Mouse and Human.

Chow, Clement Y. (2008)

(4.6MB)

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase

Kitiratschky, Veronique B. D.; Behnen, Petra; Kellner, Ulrich; Heckenlively, John R.; Zrenner, Eberhart; Jägle, Herbert; Kohl, Susanne; Wissinger, Bernd; Koch, Karl-Wilhelm (Wiley Subscription Services, Inc., A Wiley Company, 2009-08)

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Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Weisschuh, Nicole; Stingl, Katarina; Audo, Isabelle; Biskup, Saskia; Bocquet, Béatrice; Branham, Kari; Burstedt, Marie S; Baere, Elfride; Vries, Meindert J; Golovleva, Irina; Green, Andrew; Heckenlively, John; Leroy, Bart P; Meunier, Isabelle; Traboulsi, Elias; Wissinger, Bernd; Kohl, Susanne (Wiley Periodicals, Inc., 2018-10)

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Mutations in the hepatitis B virus polymerase gene associated with antiviral treatment for hepatitis B

Hussain, Maha H. A.; Lok, Anna Suk-Fong (Blackwell Science Ltd, 1999-05)

(244.9KB)

Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3)

Yamagata, K.; Oda, N.; Kaisaki, P. J.; Menzel, S.; Furuta, H.; Vaxillaire, M.; Southam, L.; Cox, R. D.; Lathrop, G. Mark; Boriraj, V. V.; Chen, Xiangna N.; Cox, Nancy J.; Oda, Y.; Yano, Hideki; LeBeau, M. M.; Yamada, S.; Nishigori, H.; Takeda, J.; Fajans, Stefan S.; Hattersley, A. T.; Iwasaki, N.; Hansen, T.; Pedersen, O.; Polonsky, Kenneth S.; Turner, R. C.; Velho, G.; Chevre, J. C.; Froguel, P.; Bell, Graeme I. (Macmillan Magazines Ltd., 1996-12-05)

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Mutations In the hepatocyte nuclear factor-4 alpha gene in maturity-onset diabetes of the young (MODY1)

Yamagata, K.; Furuta, H.; Oda, N.; Kaisaki, P. J.; Menzel, S.; Cox, Nancy J.; Fajans, Stefan S.; Signorini, S.; Stoffel, M.; Bell, Graeme I. (Macmillan Magazines Ltd., 1996-12-05)

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Mutations in the Hoxa-13 gene that affect mouse and human limb development.

Mortlock, Douglas Paul (1997)

(7.2MB)

Mutations in the human laminin Β2 ( LAMB2 ) gene and the associated phenotypic spectrum a

Matejas, Verena; Hinkes, Bernward; Alkandari, Faisal; Al-Gazali, Lihadh; Annexstad, Ellen; Aytac, Mehmet B.; Barrow, Margaret; Bláhová, Kveta; Bockenhauer, Detlef; Cheong, Hae Il; Maruniak-Chudek, Iwona; Cochat, Pierre; Dötsch, Jörg; Gajjar, Priya; Hennekam, Raoul C.; Janssen, Françoise; Kagan, Mikhail; Kariminejad, Ariana; Kemper, Markus J.; Koenig, Jens; Kogan, Jillene; Kroes, Hester Y.; Kuwertz-Bröking, Eberhard; Lewanda, Amy F.; Medeira, Ana; Muscheites, Jutta; Niaudet, Patrick; Pierson, Michel; Saggar, Anand; Seaver, Laurie; Suri, Mohnish; Tsygin, Alexey; Wühl, Elke; Zurowska, Aleksandra; Uebe, Steffen; Hildebrandt, Friedhelm; Antignac, Corinne; Zenker, Martin (Wiley Subscription Services, Inc., A Wiley Company, 2010-09)

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Mutations in the Nutr Region of Phage Lambda That Affect N-Mediated Transcription Antitermination.

Olson, Eric Robert (1983)

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Mutations In The P53 Gene Occur In Diverse Human-tumor Types

Nigro, J. M.; Baker, S. J.; Preisinger, A. C.; Jessup, J. M.; Hostetter, R.; Cleary, K.; Bigner, S. H.; Davidson, N.; Baylin, S.; Devilee, P.; Glover, T.; Collins, Francis S.; Weston, A.; Modali, R.; Harris, C. C.; Vogelstein, Bert (Macmillan Magazines Ltd., 1989-12-07)

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Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Seong, Eunju; Insolera, Ryan; Dulovic, Marija; Kamsteeg, Erik‐jan; Trinh, Joanne; Brüggemann, Norbert; Sandford, Erin; Li, Sheng; Ozel, Ayse Bilge; Li, Jun Z.; Jewett, Tamison; Kievit, Anneke J. A.; Münchau, Alexander; Shakkottai, Vikram; Klein, Christine; Collins, Catherine A.; Lohmann, Katja; Warrenburg, Bart P.; Burmeister, Margit (Wiley Periodicals, Inc., 2018-06)

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Mutations Involving RBP4 and SOX3 Underlie Two Novel Forms of Congenital Eye Malformations.

Chou, Christopher M. (2014)

(7.7MB)

Mutations of phage P22 affecting phage DNA synthesis and lysogenization

Levine, Myron; Schott, Carol (Elsevier, 1971-11-28)

(859.9KB)

Mutations of the collagen genes COL4A3 and COL4A4 and the novel semaphorin SEMA4F in the mouse.

Lu, Wei (2000)

(5.3MB)