المؤلفون: Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T

المساهمون: DEPT OF OTOLARYNGOLOGY

المصدر: Unpaywall 20201031

مصطلحات موضوعية: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase, ubiquitin protein ligase E3, unclassified drug, HACE1 protein, human, ubiquitin protein ligase, adolescent, adult, apraxia, Article, autosomal recessive disorder, autosomal recessive inheritance, chest infection, child, clinical article, cognitive defect, consanguinity, divergent strabismus, dystonic disorder, enzyme deficiency, epilepsy, exome, female, gait disorder, gene sequence, genetic variability, immobility, intellectual impairment, lordosis, loss of function mutation

العلاقة: Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T (2015). HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics 52 (12) : 797-803. ScholarBank@NUS Repository. https://doi.org/10.1136/jmedgenet-2015-103344Test; https://scholarbank.nus.edu.sg/handle/10635/180093Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2015-103344Test
https://scholarbank.nus.edu.sg/handle/10635/180093Test

المؤلفون: 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, LIA

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

مصطلحات موضوعية: arrhythmogenic right ventricular dysplasia, cadherin, cardiomyopathie, genetic, mutation, Adolescent, Adult, Amino Acid Substitution, Antigens, CD, Female, Human, Male, Exome, Missense, Cardiology and Cardiovascular Medicine, Genetics (clinical), MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, MED/03 - GENETICA MEDICA

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28280076; info:eu-repo/semantics/altIdentifier/wos/WOS:000397822400003; volume:10; issue:2; journal:CIRCULATION, CARDIOVASCULAR GENETICS; http://hdl.handle.net/10281/171722Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018214956; http://circgenetics.ahajournals.orgTest/

الإتاحة: https://doi.org/10.1161/CIRCGENETICS.116.001605Test
http://hdl.handle.net/10281/171722Test
http://circgenetics.ahajournals.orgTest/

المؤلفون: Zech, M., Boesch, S., Jochim, A., Weber, S., Meindl, T., Schormair, B., Wieland, T., Lunetta, C., Sansone, V., Messner, M., Mueller, J.C., Ceballos-Baumann, A., Strom, T.M., Colombo, R., Poewe, W., Haslinger, B., Winkelmann, J.

المصدر: Mov. Disord. 32, 549-559 (2016)

مصطلحات موضوعية: Adcy5, Ano3, Diagnostics, Dystonia, Exome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27666935; info:eu-repo/semantics/altIdentifier/wos/WOS:000399758800012; info:eu-repo/semantics/altIdentifier/isbn/0885-3185; info:eu-repo/semantics/altIdent; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49563Test; urn:isbn:0885-3185; urn:issn:0885-3185; urn:issn:1531-8257

الإتاحة: https://doi.org/10.1002/mds.26808Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49563Test

المؤلفون: CROTTI, LIA, Johnson C.N., Graf E., DE FERRARI, GAETANO, Cuneo B.F., Ovadia M., Papagiannis J., Feldkamp M.D., Rathi S.G., Kunic J.D., Pedrazzini M., Wieland T., Lichtner P., Beckmann B.M., Clark T., Shaffer C., Benson D.W., Kääb S., Meitinger T., Strom T.M., Chazin W.J., SCHWARTZ, PETER, George AL J.r.

المساهمون: CROTTI, LIA, Johnson C.N., Graf E., DE FERRARI, GAETANO, Cuneo B.F., Ovadia M., Papagiannis J., Feldkamp M.D., Rathi S.G., Kunic J.D., Pedrazzini M., Wieland T., Lichtner P., Beckmann B.M., Clark T., Shaffer C., Benson D.W., Kääb S., Meitinger T., Strom T.M., Chazin W.J., SCHWARTZ, PETER, George AL J.r.

مصطلحات موضوعية: arrhythmia, calcium signaling, death, sudden, cardiac, exome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23388215; info:eu-repo/semantics/altIdentifier/wos/WOS:000315804800015; volume:127; issue:9; firstpage:1009; lastpage:1017; numberofpages:9; journal:CIRCULATION; http://hdl.handle.net/2318/1737520Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84874664698

الإتاحة: https://doi.org/10.1161/CIRCULATIONAHA.112.001216Test
http://hdl.handle.net/2318/1737520Test

المؤلفون: Haack T. B., Haberberger B., Frisch E. -M., Wieland T., Iuso A., Gorza M., Strecker V., Graf E., Mayr J. A., Herberg U., Hennermann J. B., Klopstock T., Kuhn K. A., Ahting U., Sper W., Wilichowski E., Hoffmann G. F., Tesarova M., Hansikova H., Zeman J., Plecko B., Zeviani M., Wittig I., Strom T. M., Schuelke M., Freisinger P., Meitinger T., Prokisch H.

المساهمون: Haack, T. B., Haberberger, B., Frisch, E. -M., Wieland, T., Iuso, A., Gorza, M., Strecker, V., Graf, E., Mayr, J. A., Herberg, U., Hennermann, J. B., Klopstock, T., Kuhn, K. A., Ahting, U., Sper, W., Wilichowski, E., Hoffmann, G. F., Tesarova, M., Hansikova, H., Zeman, J., Plecko, B., Zeviani, M., Wittig, I., Strom, T. M., Schuelke, M., Freisinger, P., Meitinger, T., Prokisch, H.

مصطلحات موضوعية: Amino Acid Substitution, Electron Transport Complex I, Gene Expression, Human, Mitochondrial Disease, Mutation, NADH Dehydrogenase, Exome, Sequence Analysis, DNA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22499348; info:eu-repo/semantics/altIdentifier/wos/WOS:000302789800011; volume:49; issue:4; firstpage:277; lastpage:283; numberofpages:7; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3354252Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84864082138

الإتاحة: https://doi.org/10.1136/jmedgenet-2012-100846Test
http://hdl.handle.net/11577/3354252Test

المؤلفون: Mayr J. A., Haack T. B., Graf E., Zimmermann F. A., Wieland T., Haberberger B., Superti-Furga A., Kirschner J., Steinmann B., Baumgartner M. R., Moroni I., Lamantea E., Zeviani M., Rodenburg R. J., Smeitink J., Strom T. M., Meitinger T., Sperl W., Prokisch H.

المساهمون: Mayr, J. A., Haack, T. B., Graf, E., Zimmermann, F. A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M. R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R. J., Smeitink, J., Strom, T. M., Meitinger, T., Sperl, W., Prokisch, H.

مصطلحات موضوعية: Adult, Allele, Cardiomyopathie, Cataract, Child, Exome, Female, Heterozygote, Human, Infant, Newborn, Male, Mitochondria, Mitochondrial ADP, ATP Translocase, Mitochondrial Protein, Muscle, Phenotype, Phospholipid, Phosphotransferases (Alcohol Group Acceptor), Young Adult, Codon, Nonsense

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/wos/WOS:000300742200013; volume:90; issue:2; firstpage:314; lastpage:320; numberofpages:7; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354256Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84857043743

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.005Test
http://hdl.handle.net/11577/3354256Test

المؤلفون: Beetz, C., Pieber, T.R., Hertel, N., Schabhüttl, M., Fischer, C., Trajanoski, S., Graf, E., Keiner, S., Kurth, I., Wieland, T., Varga, R.-E., Timmerman, V., Reilly, M.M., Strom, T.M., Auer-Grumbach, M.

المصدر: Am. J. Hum. Genet. 91, 139-145 (2012)

مصطلحات موضوعية: Male, Report, Mutation, Humans, Membrane Transport Proteins, Peripheral Nervous System Diseases, Exome, Female, Sequence Analysis, DNA, Cell Line, Pedigree

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9a4f45117ee1473be2b99af7985ebba2Test
https://pubmed.ncbi.nlm.nih.gov/22703882Test

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