المؤلفون: Mayosi, Bm, Fish, M, Shaboodien, G, Mastantuono, E, Kraus, S, Wieland, T, Kotta, Mc, Chin, A, Laing, N, Ntusi, Nb, Chong, M, Horsfall, C, Pimstone, Sn, Gentilini, D, Parati, G, Strom, Tm, Meitinger, T, Pare, G, SCHWARTZ, PETER, CROTTI, LIA

المساهمون: Mayosi, Bm, Fish, M, Shaboodien, G, Mastantuono, E, Kraus, S, Wieland, T, Kotta, Mc, Chin, A, Laing, N, Ntusi, Nb, Chong, M, Horsfall, C, Pimstone, Sn, Gentilini, D, Parati, G, Strom, Tm, Meitinger, T, Pare, G, Schwartz, Peter, Crotti, Lia

مصطلحات موضوعية: cadherin, arrhythmogenic right ventricular cardiomyopathy, mutation, exome sequencing

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28280076; info:eu-repo/semantics/altIdentifier/wos/000397822400003; volume:10; issue:2; numberofpages:28; journal:CIRCULATION, CARDIOVASCULAR GENETICS; http://hdl.handle.net/11571/1181183Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018214956; https://www.ncbi.nlm.nih.gov/pubmed/?term=28280076Test

الإتاحة: http://hdl.handle.net/11571/1181183Test
https://www.ncbi.nlm.nih.gov/pubmed/?term=28280076Test

المؤلفون: Haack, T.B., Gorza, M., Danhauser, K., Mayr, J.A., Haberberger, B., Wieland, T., Kremer, L.S., Strecker, V., Graf, E., Memari, Y., Ahting, U., Kopajtich, R., Wortmann, S.B., Rodenburg, R.J., Kotzaeridou, U., Hoffmann, G.F., Sperl, W., Wittig, I., Wilichowski, E., Schottmann, G., Schuelke, M., Plecko, B., Stephani, U., Strom, T.M., Meitinger, T., Prokisch, H., Freisinger, P.

المصدر: Mol. Genet. Metab. 111, 342-352 (2014)

مصطلحات موضوعية: Exome Sequencing, Leigh Syndrome, Mitochondrial Translation, Mtfmt, Oxphos Deficiency

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000332500200154; info:eu-repo/semantics/altIdentifier/isbn/1096-7192; info:eu-repo/semantics/altIdentifier/pissn/1096-7192; info:eu-repo/semant; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=30734Test; urn:isbn:1096-7192; urn:issn:1096-7192

الإتاحة: https://doi.org/10.1016/j.ymgme.2013.12.010Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=30734Test

المؤلفون: Nakita Laing, Simon N. Pimstone, Thomas Meitinger, Ashley Chin, Ntobeko B A Ntusi, Tim Matthias Strom, Thomas Wieland, Maryam Fish, Maria Christina Kotta, Gasnat Shaboodien, Sarah Kraus, Peter J. Schwartz, Bongani M. Mayosi, Davide Gentilini, Gianfranco Parati, Guillaume Paré, Elisa Mastantuono, Lia Crotti, Christopher Horsfall, Michael Chong

المساهمون: Mayosi, B, Fish, M, Shaboodien, G, Mastantuono, E, Kraus, S, Wieland, T, Kotta, M, Chin, A, Laing, N, Ntusi, N, Chong, M, Horsfall, C, Pimstone, S, Gentilini, D, Parati, G, Strom, T, Meitinger, T, Pare, G, Schwartz, P, Crotti, L

المصدر: Circ. Cardiovasc. Genet. 10:e001605 (2017)

مصطلحات موضوعية: 0301 basic medicine, arrhythmogenic right ventricular dysplasia, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, MED/03 - GENETICA MEDICA, Mutation, Missense, 030204 cardiovascular system & hematology, Biology, medicine.disease_cause, CDH2, Right ventricular cardiomyopathy, 03 medical and health sciences, 0302 clinical medicine, Genetic, Antigens, CD, Genetics, medicine, Exome, Exome sequencing, Genetics (clinical), Mutation, cardiomyopathie, Arrhythmogenic Right Ventricular Dysplasia, Cadherins, Cardiomyopathies, Genetic heterogeneity, Cadherin, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, medicine.disease, Molecular biology, Arrhythmogenic right ventricular dysplasia, 030104 developmental biology, cadherin, Amino Acid Substitution, Female, mutation, Cardiology and Cardiovascular Medicine, Human

وصف الملف: STAMPA; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e0ec143230e15cedff076d95c4033eTest
http://hdl.handle.net/10281/171722Test

المؤلفون: Peter J. Schwartz, Travis Clark, Christopher N. Johnson, Tim M. Strom, Christian M. Shaffer, Thomas Meitinger, Subodh Rathi, D. Woodrow Benson, Gaetano M. De Ferrari, John Papagiannis, Elisabeth Graf, Michael D. Feldkamp, Britt M. Beckmann, Thomas Wieland, Marc Ovadia, Alfred L. George, Jennifer D. Kunic, Lia Crotti, Peter Lichtner, Matteo Pedrazzini, Walter J. Chazin, Stefan Kääb, Bettina F. Cuneo

المساهمون: Crotti, L, Johnson, C, Graf, E, De Ferrari, G, Cuneo, B, Ovadia, M, Papagiannis, J, Feldkamp, M, Rathi, S, Kunic, J, Pedrazzini, M, Wieland, T, Lichtner, P, Beckmann, B, Clark, T, Shaffer, C, Benson, D, Kääb, S, Meitinger, T, Strom, T, Chazin, W, Schwartz, P, George AL, J

المصدر: Circulation 127, 1009-1017 (2013)
Circulation
Circulation; Vol 127

مصطلحات موضوعية: Proband, Male, Candidate gene, 030204 cardiovascular system & hematology, Bioinformatics, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Arrhythmia, Calcium Signaling, Death, Sudden, Cardiac, Exome, Recurrence, Medicine, Exome sequencing, Genetics, 0303 health sciences, Mutation, 3. Good health, Pedigree, Long QT Syndrome, Child, Preschool, Cohort, Female, Cardiology and Cardiovascular Medicine, arrhythmia, calcium signaling, death, sudden, cardiac, exome, Long QT syndrome, Molecular Sequence Data, BIO/18 - GENETICA, 03 medical and health sciences, Calmodulin, Physiology (medical), Humans, Amino Acid Sequence, Gene, Genetic Association Studies, 030304 developmental biology, business.industry, Infant, Newborn, Infant, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, medicine.disease, Heart Arrest, business, Follow-Up Studies

وصف الملف: STAMPA; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20a020965a06a38ff46aa85a4729503fTest
http://hdl.handle.net/10281/189535Test

المؤلفون: Birgitte Rahbek Kornum, Tim M. Strom, Fabian Grubert, Elisabeth Graf, Fabio Pizza, Ling Lin, Juliette Faraco, Atle Melberg, Alexander E. Urban, Juliane Winkelmann, Giuseppe Plazzi, Barbara Schormair, Francesca Poli, Thomas Wieland, Emmanuel Mignot, Ferdinando Cornelio, Joachim Hallmayer

المساهمون: Winkelmann J., Lin L., Schormair B., Kornum B.R., Faraco J., Plazzi G., Melberg A., Cornelio F., Urban A.E., Pizza F., Poli F., Grubert F., Wieland T., Graf E., Hallmayer J., Strom T.M., Mignot E.

المصدر: Hum. Mol. Genet. 21, 2205-2210 (2012)
Human Molecular Genetics
Human Molecular Genetics; Vol 21

مصطلحات موضوعية: DNA (Cytosine-5-)-Methyltransferase 1, Ataxia, Cerebellar Ataxia, phenotype, Molecular Sequence Data, Biology, Deafness, medicine.disease_cause, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Genetics, medicine, Humans, Exome, Amino Acid Sequence, DNA (Cytosine-5-)-Methyltransferases, Molecular Biology, Genetics (clinical), Exome sequencing, 030304 developmental biology, Genes, Dominant, Narcolepsy, Sanger sequencing, 0303 health sciences, Mutation, Cerebellar ataxia, General Medicine, Articles, Exons, medicine.disease, narcolepsy genetics, Pedigree, Phenotype, narcolepsy genetic, symbols, medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622c418a4cf65d1083c8d04b3c526247Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=7505Test