Resultados de procura - Meitinger, Thomas 

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families por Wjst, Matthias, Lichtner, Peter, Meitinger, Thomas, Grimbacher, Bodo

Ligazón do recurso Ligazón do recurso Ligazón do recurso

MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34 por Westphal, Dominik S., Andres, Stephanie, Makowski, Christine, Meitinger, Thomas, Hoefele, Julia

Ligazón do recurso Ligazón do recurso Ligazón do recurso

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase por Linari, Marco, Ueffing, Marius, Manson, Forbes, Wright, Alan, Meitinger, Thomas, Becker, Jörg

Ligazón do recurso Ligazón do recurso

Genome-wide association studies of atrial fibrillation: past, present, and future por Sinner, Moritz F., Ellinor, Patrick T., Meitinger, Thomas, Benjamin, Emelia J., Kääb, Stefan

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Effect of genome-wide simultaneous hypotheses tests on the discovery rate por Eyheramendy, Susana, Gieger, Christian, Laan, Maris, Illig, Thomas, Meitinger, Thomas, Wichmann, Erich

Ligazón do recurso Ligazón do recurso

Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder por Brunet, Theresa, Radivojkov‐Blagojevic, Milena, Lichtner, Peter, Kraus, Verena, Meitinger, Thomas, Wagner, Matias

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Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases por Kolarova, Hana, Tan, Jing, Strom, Tim M., Meitinger, Thomas, Wagner, Matias, Klopstock, Thomas

Ligazón do recurso Ligazón do recurso Ligazón do recurso

A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier por Wöhlke, Anne, Philipp, Ute, Bock, Patricia, Beineke, Andreas, Lichtner, Peter, Meitinger, Thomas, Distl, Ottmar

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing por Krenn, Martin, Milenkovic, Ivan, Eckstein, Gertrud, Zimprich, Fritz, Meitinger, Thomas, Foki, Thomas, Wagner, Matias

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery por Eck, Sebastian H, Benet-Pagès, Anna, Flisikowski, Krzysztof, Meitinger, Thomas, Fries, Ruedi, Strom, Tim M

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Impairment of Drosophila Orthologs of the Human Orphan Protein C19orf12 Induces Bang Sensitivity and Neurodegeneration por Iuso, Arcangela, Sibon, Ody C. M., Gorza, Matteo, Heim, Katharina, Organisti, Cristina, Meitinger, Thomas, Prokisch, Holger

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Mitochondrial Genetic Variants Identified to Be Associated with BMI in Adults por Flaquer, Antònia, Baumbach, Clemens, Kriebel, Jennifer, Meitinger, Thomas, Peters, Annette, Waldenberger, Melanie, Grallert, Harald, Strauch, Konstantin

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis por Radelfahr, Florentine, Riedhammer, Korbinian M., Keidel, Leonie F., Gramer, Gwendolyn, Meitinger, Thomas, Klopstock, Thomas, Wagner, Matias

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia por Stöber, Gerald, Kohlmann, Bernd, Siekiera, Markus, Rubie, Claudia, Gawlik, Micha, Möller-Ehrlich, Kerstin, Meitinger, Thomas, Bettecken, Thomas

Ligazón do recurso Ligazón do recurso Ligazón do recurso

A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy por Brugger, Melanie, Becker‐Dettling, Fiona, Brunet, Theresa, Strom, Tim, Meitinger, Thomas, Lurz, Eberhard, Borggraefe, Ingo, Wagner, Matias

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb por Umair, Muhammad, Shah, Khadim, Alhaddad, Bader, Haack, Tobias B, Graf, Elisabeth, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and... por Riedhammer, Korbinian Maria, Siegel, Corinna, Alhaddad, Bader, Montoya, Carmen, Kovacs-Nagy, Reka, Wagner, Matias, Meitinger, Thomas, Hoefele, Julia

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins por Krenn, Martin, Ernst, Margot, Tomschik, Matthias, Treven, Marco, Wagner, Matias, Westphal, Dominik S., Meitinger, Thomas, Pataraia, Ekaterina, Zimprich, Fritz, Aull‐Watschinger, Susanne

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Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases por Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730] por Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas

Ligazón do recurso Ligazón do recurso Ligazón do recurso