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: Kopajtich R., Nicholls T. J., Rorbach J., Metodiev M. D., Freisinger P., Mandel H., Vanlander A., Ghezzi D., Carrozzo R., Taylor R. W., Marquard K., Murayama K., Wieland T., Schwarzmayr T., Mayr J. A., Pearce S. F., Powell C. A., Saada A., Ohtake A., Invernizzi F., Lamantea E., Sommerville E. W., Pyle A., Chinnery P. F., Crushell E., Okazaki Y., Kohda M., Kishita Y., Tokuzawa Y., Assouline Z., Rio M., Feillet F., Mousson De Camaret B., Chretien D., Munnich A., Menten B., Sante T., Smet J., Regal L., Lorber A., Khoury A., Zeviani M., Strom T. M., Meitinger T., Bertini E. S., Van Coster R., Klopstock T., Rotig A., Haack T. B., Minczuk M., Prokisch H.

المساهمون: Kopajtich, R., Nicholls, T. J., Rorbach, J., Metodiev, M. D., Freisinger, P., Mandel, H., Vanlander, A., Ghezzi, D., Carrozzo, R., Taylor, R. W., Marquard, K., Murayama, K., Wieland, T., Schwarzmayr, T., Mayr, J. A., Pearce, S. F., Powell, C. A., Saada, A., Ohtake, A., Invernizzi, F., Lamantea, E., Sommerville, E. W., Pyle, A., Chinnery, P. F., Crushell, E., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Assouline, Z., Rio, M., Feillet, F., Mousson De Camaret, B., Chretien, D., Munnich, A., Menten, B., Sante, T., Smet, J., Regal, L., Lorber, A., Khoury, A., Zeviani, M., Strom, T. M., Meitinger, T., Bertini, E. S., Van Coster, R., Klopstock, T., Rotig, A., Haack, T. B., Minczuk, M., Prokisch, H.

مصطلحات موضوعية: Acidosis, Lactic, Amino Acid Sequence, Brain, Brain Disease, Cardiomyopathy, Hypertrophic, Cell Line, Child, Preschool, Consanguinity, Female, Fibroblast, GTP-Binding Protein, Human, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Pedigree, Protein Biosynthesi, RNA Interference, RNA, Transfer, Sequence Alignment, Protein Processing, Post-Translational

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25434004; info:eu-repo/semantics/altIdentifier/wos/WOS:000346623100007; volume:95; issue:6; firstpage:708; lastpage:720; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354208Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919678076

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.10.017Test
http://hdl.handle.net/11577/3354208Test

المؤلفون: Gai X., Ghezzi D., Johnson M. A., Biagosch C. A., Shamseldin H. E., Haack T. B., Reyes A., Tsukikawa M., Sheldon C. A., Srinivasan S., Gorza M., Kremer L. S., Wieland T., Strom T. M., Polyak E., Place E., Consugar M., Ostrovsky J., Vidoni S., Robinson A. J., Wong L. -J., Sondheimer N., Salih M. A., Al-Jishi E., Raab C. P., Bean C., Furlan F., Parini R., Lamperti C., Mayr J. A., Konstantopoulou V., Huemer M., Pierce E. A., Meitinger T., Freisinger P., Sperl W., Prokisch H., Alkuraya F. S., Falk M. J., Zeviani M.

المساهمون: Gai, X., Ghezzi, D., Johnson, M. A., Biagosch, C. A., Shamseldin, H. E., Haack, T. B., Reyes, A., Tsukikawa, M., Sheldon, C. A., Srinivasan, S., Gorza, M., Kremer, L. S., Wieland, T., Strom, T. M., Polyak, E., Place, E., Consugar, M., Ostrovsky, J., Vidoni, S., Robinson, A. J., Wong, L. -J., Sondheimer, N., Salih, M. A., Al-Jishi, E., Raab, C. P., Bean, C., Furlan, F., Parini, R., Lamperti, C., Mayr, J. A., Konstantopoulou, V., Huemer, M., Pierce, E. A., Meitinger, T., Freisinger, P., Sperl, W., Prokisch, H., Alkuraya, F. S., Falk, M. J., Zeviani, M.

مصطلحات موضوعية: Age of Onset, Child, Preschool, Chromosome, Human, Pair 6, DNA, Complementary, F-Box Protein, Female, Fibroblast, Gene, Recessive, HEK293 Cell, Infant, Newborn, Male, Mitochondria, Mitochondrial Encephalomyopathie, Mitochondrial Protein, Muscle, Skeletal, Mutant Protein, Mutation, Oxidative Phosphorylation, Pedigree, Protein Transport, Subcellular Fraction, Syndrome, Ubiquitin-Protein Ligase

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000330268900007; volume:93; issue:3; firstpage:482; lastpage:495; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11390/1237166Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84883780647

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.07.016Test
https://hdl.handle.net/11390/1237166Test

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: 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