অনুসন্ধান ফলাফলগুলি - Harald Gaspar
- প্রদর্শন 1 - 5 ফলাফল এর 5
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1
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation অনুযায়ী F Schmid, Esther Glaus, Daniel Barthelmes, Manfred Fliegauf, Harald Gaspar, Gudrun Nürnberg, Peter Nürnberg, Heymut Omran, Wolfgang Berger, John Neidhardt
প্রকাশিত 2011Artigo -
2
HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1 Mice অনুযায়ী Bryn D. Webb, Sherin Shaaban, Harald Gaspar, Luis F. Cunha, Christian Schubert, Ke Hao, Caroline D. Robson, Wai‐Man Chan, Caroline Andrews, Sarah MacKinnon, Darren T. Oystreck, David G. Hunter, Anthony J. Iacovelli, Xiaoqian Ye, Anne Camminady, Elizabeth C. Engle, Ethylin Wang Jabs
প্রকাশিত 2012Artigo -
3
Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa অনুযায়ী Bert Callewaert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier Vanakker, Bianca Schulz, Meghan Mac Neal, Elaine C. Davis, Joseph G. H. Lee, Aïcha Salhi, Sheila Unger, Ketil Heimdal, Salomé de Almeida, Uwe Kornak, Harald Gaspar, J. Bresson, Katrina Prescott, Maria E. Gosendi, Sahar Mansour, Gérald Pierard, Suneeta Madan‐Khetarpal, Frank C. Sciurba, Sofie Symoens, Paul Coucke, Lionel Van Maldergem, Zsolt Urbán, Anne De Paepe
প্রকাশিত 2012Artigo -
4
Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i> অনুযায়ী Benjamin D. Solomon, Kelly Bear, Adrian Wyllie, Amelia A. Keaton, Christèle Dubourg, Véronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimée Paulussen, Nancy J. Clegg, Mauricio R. Delgado, Sherri J. Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S. Aylsworth, Ntombenhle Louisa Bhengu, Stephen R. Braddock, Karen Brookhyser, Barbara K. Burton, Harald Gaspar, Art Grix, Dafne Dain Gandelman Horovitz, Erin Kanetzke, Hülya Kayserili, Dorit Lev, Sarah M. Nikkel, Mary E. Norton, Richard M. Roberts, Howard M. Saal, G. Bradley Schaefer, Adele Schneider, E. Smith, Ellen Sowry, M. Anne Spence, Stavit A. Shalev, Carlos Eduardo Steiner, Elizabeth M. Thompson, Thomas Winder, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Daniel Pineda‐Alvarez, Erich Roessler, Maximilian Muenke
প্রকাশিত 2012Artigo -
5
Genetic landscape of pediatric acute liver failure of indeterminate origin অনুযায়ী Dominic Lenz, Lea D. Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, Riccardo Berutti, Rüdiger Adam, Denise Aldrian, Ivo Barić, Ulrich Baumann, Neslihan Ekşi Bozbulut, Melanie Brugger, Theresa Brunet, Philip Bufler, Birutė Burnytė, Pier Luigi Calvo, Ellen Crushell, Buket Dalgıç, Anibh M. Das, Antal Dezsöfi, Felix Distelmaier, Alexander Fichtner, Peter Freisinger, Sven F. Garbade, Harald Gaspar, Louise Goujon, Nedim Hadžić, Steffen Hartleif, Bianca Hegen, Maja Hempel, Stephan Henning, André Hoerning, Roderick H.J. Houwen, Joanne Hughes, Raffaele Iorio, Katarzyna Iwanicka‐Pronicka, Martin Jankofsky, Norman Junge, Ino Kanavaki, Aydan Kansu, Sonja Kaspar, Simone Kathemann, Deidre Kelly, Ceyda Tuna Kırşaçlıoğlu, Birgit Knoppke, Martina Kohl, Heike Kölbel, Stefan Kölker, Vassiliki Konstantopoulou, Tatiana Krylova, Zarife Kuloğlu, Alice Kuster, Martin W. Laaß, Elke Lainka, Eberhard Lurz, Hanna Mandel, Katharina Mayerhanser, Johannes A. Mayr, Patrick McKiernan, Patricia McClean, Valérie A. McLin, Karine Mention, Hanna Müller, Laurent Pasquier, Martin Pavlov, Natalia L. Pechatnikova, Bianca Peters, Danijela Petković Ramadža, Dorota Piekutowska‐Abramczuk, Denisa Pilic, Sanjay Rajwal, Nathalie Rock, Agnès Roetig, René Santer, Wilfried Schenk, Наталя Семенова, Christiane Sokollik, Ekkehard Sturm, Robert W. Taylor, Eva Tschiedel, Vaidotas Urbonas, Roser Urreizti, Jan Vermehren, Jerry Vockley, Georg-Friedrich Vogel, Matias Wagner, Wendy van der Woerd, Saskia B. Wortmann, Ekaterina Zakharova, Georg F. Hoffmann, Thomas Meitinger, Kei Murayama, Christian Staufner, Holger Prokisch
প্রকাশিত 2023Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Gene
Genetics
Medicine
Mutation
Phenotype
Disease
Internal medicine
Missense mutation
Allele
Alternative splicing
Area under the curve
Carbidopa
Cutis laxa
Endocrinology
Environmental health
Etiology
Exome sequencing
Exon
Exon skipping
Gastroenterology
Genetic testing
Homeobox
Hox gene
Indeterminate
Levodopa
Liver disease
Liver failure
Liver transplantation
Mathematics