検索結果 - Mateja Smogavec
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Large neutral amino acid levels tune perinatal neuronal excitability and survival 著者: Lisa S. Knaus, Bernadette Basilico, Daniel Malzl, Maria Gerykova Bujalkova, Mateja Smogavec, Lena A. Schwarz, Sarah Gorkiewicz, Nicole Amberg, Florian M. Pauler, Christian Knittl‐Frank, Marianna Tassinari, Nuno Maulide, Thomas Rülicke, Jörg Menche, Simon Hippenmeyer, Gaia Novarino
出版事項 2023Artigo -
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Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum 著者: Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie‐Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoît, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gécz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier
出版事項 2016Artigo -
3
Gene panel testing of 5589 <i><scp>BRCA</scp>1/2</i>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Bre... 著者: Jan Hauke, Judit Horváth, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang‐Gohrke, Mateja Smogavec, Bernhard H. F. Weber, Nana Weber‐Lassalle, Konstantin Weber‐Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E. Volk, Hölger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, N Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Rückert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen
出版事項 2018Artigo
関連主題
Biology
Gene
Genetics
Mutation
Neuroscience
Allele
Amino acid
Biochemistry
Bioinformatics
Breast cancer
Cancer
Cell biology
Central nervous system
Cerebral cortex
Compound heterozygosity
Copy-number variation
Cortical dysplasia
Endocrinology
Epilepsy
Epilepsy syndromes
Forebrain
Genome
Germline
Germline mutation
Intellectual disability
Internal medicine
Medicine
Metabolic pathway
Metabolism
Metabolomics