Kết quả tìm kiếm - Imma Rost
- Đang hiển thị 1 - 3 kết quả của 3
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1
Mapping translocation breakpoints by next-generation sequencing Bằng Wei Chen, Vera M. Kalscheuer, Andreas Tzschach, Corinna Menzel, Reinhard Ullmann, Marcel H. Schulz, Fikret Erdogan, Na Li, Zofia Kijas, Ger J. A. Arkesteijn, I. López Pajares, Margret Goetz-Sothmann, Uwe Heinrich, Imma Rost, Andreas Dufke, Ute Grasshoff, Birgitta Glaeser, Martin Vingron, Hans‐Hilger Ropers
Được phát hành 2008Artigo -
2
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals Bằng Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, Tzung‐Chien Hsieh, Alexandra Afenjar, Stefanie Beck‐Wödl, Ute Grasshoff, Tobias B. Haack, Emilia K. Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K. Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch‐Hogrebe, Kevin Rostásy, Vanesa López‐González, María José Sánchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J. Kaiser, Alma Kuechler
Được phát hành 2023Artigo -
3
Phenotypic spectrum of <i>GABRA1</i> Bằng Katrine M. Johannesen, Carla Marini, Siona Pfeffer, Rikke S. Møller, Thomas Dorn, Cristina Elena Niturad, Elena Gardella, Yvonne G. Weber, Marianne Søndergård, Helle Hjalgrim, Mariana Nikanorova, Felicitas Becker, Line H.G. Larsen, Hans A. Dahl, Oliver Maier, Davide Mei, Saskia Biskup, Karl Martin Klein, Philipp S. Reif, Felix Rosenow, Abdallah F. Elias, Cindy Hudson, Katherine L. Helbig, Susanne Schubert‐Bast, Maria Rosaria Scordo, Dana Craiu, Tania Djémié, Dorota Hoffman‐Zacharska, Hande Çağlayan, Ingo Helbig, José M. Serratosa, Pasquale Striano, Peter De Jonghe, Sarah Weckhuysen, Arvid Suls, Kai Muru, Inga Talvik, Tiina Talvik, Hiltrud Muhle, Ingo Borggraefe, Imma Rost, Renzo Guerrini, Holger Lerche, Johannes R. Lemke, Guido Rubboli, Snezana Maljevic
Được phát hành 2016Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Phenotype
Bacterial artificial chromosome
Breakpoint
Chromosomal translocation
Chromosome
Computational biology
Craniofacial
DNA sequencing
Exome sequencing
Fluorescence in situ hybridization
Genome
Haploinsufficiency
Intellectual disability
Loss function
Medicine
Missense mutation
Multiplex
Mutation
Physics
Quantum mechanics
Sanger sequencing
Spectrum (functional analysis)