المؤلفون: Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E, van Kempen, Marjan, Brilstra, Eva H, Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S, Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E, Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d'Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J, Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R, Møller, Rikke S, Baulac, Stéphanie

المصدر: Baldassari , S , Picard , F , Verbeek , N E , van Kempen , M , Brilstra , E H , Lesca , G , Conti , V , Guerrini , R , Bisulli , F , Licchetta , L , Pippucci , T , Tinuper , P , Hirsch , E , de Saint Martin , A , Chelly , J , Rudolf , G , Chipaux , M , Ferrand-Sorbets , S , Dorfmüller , G , Sisodiya , S , Balestrini , S , Schoeler , N , Hernandez-Hernandez , L , Krithika , ....

مصطلحات موضوعية: Adolescent, Brugada Syndrome/genetics, Child, Preschool, DNA Copy Number Variations/genetics, Epilepsy/complications, Female, GTPase-Activating Proteins/genetics, Genetic Predisposition to Disease, Humans, INDEL Mutation/genetics, Infant, Newborn, Loss of Function Mutation/genetics, Male, Mechanistic Target of Rapamycin Complex 1/genetics, Multiprotein Complexes/genetics, Pedigree, Repressor Proteins/genetics, Seizures/complications, Signal Transduction/genetics, Tumor Suppressor Proteins/genetics

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41436-018-0060-2Test
https://curis.ku.dk/portal/da/publications/the-landscape-of-epilepsyrelated-gator1-variantsTest(38020661-64e8-45ed-bc0c-a6ec60380e45).html
https://curis.ku.dk/ws/files/234700911/s41436_018_0060_2.pdfTest

المؤلفون: Kordestanian, Nazanin, Saadat, Mostafa

المصدر: Nordic Journal of Psychiatry. 71(8):570

المؤلفون: Skov, Laurits, Schierup, Mikkel Heide, Sørensen, Lasse Maretty, Petersen, Bent, Sibbesen, Jonas Andreas, Liu, Siyang, Belling, Kirstine G, Have, Christian Theil, Bork-Jensen, Jette, Hansen, Torben, Krogh, Anders, Sørensen, Thorkild I.A., Pedersen, Oluf Borbye, Rasmussen, Simon, Kristiansen, Karsten, Brunak, Søren

المصدر: Skov , L , Schierup , M H , Danish Pan Genome Consortium , Sørensen , L M , Petersen , B , Sibbesen , J A , Liu , S , Belling , K G , Have , C T , Bork-Jensen , J , Hansen , T , Krogh , A , Sørensen , T I A , Pedersen , O B , Rasmussen , S , Kristiansen , K & Brunak , S 2017 , ' Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion ' , ....

مصطلحات موضوعية: Chromosomes, Human, Y/genetics, Denmark, Evolution, Molecular, Fathers, Gene Conversion/genetics, Heterochromatin/genetics, Humans, INDEL Mutation/genetics, Infertility, Male/genetics, Inverted Repeat Sequences/genetics, Male, Nuclear Family, Phylogeny, Polymorphism, Single Nucleotide

الإتاحة: https://doi.org/10.1371/journal.pgen.1006834Test
https://curis.ku.dk/portal/da/publications/analysis-of-62-hybrid-assembled-human-y-chromosomes-exposes-rapid-structural-changes-and-high-rates-of-gene-conversionTest(0a9598b4-4a0a-4a39-b6f6-7fdd1bb7aee5).html

المؤلفون: Johannes R. Lemke, Pia Zacher, Thomas Dorn, Laura Hernandez-Hernandez, Natasha E. Schoeler, Stéphanie Baulac, Sara Baldassari, Anne de Saint Martin, Eleni Panagiotakaki, Anne Fabienne Lepine, Markus Wolff, Arnaud Biraben, Renske Oegema, Edouard Hirsch, Anna Jansen, Charles Deckers, Nienke E. Verbeek, Fabienne Picard, Georg Dorfmüller, Sarah Ferrand-Sorbets, Barbora Benova, Francesca Bisulli, Inga Talvik, Kristin Lindstrom, Tilman Polster, Douglas R. Nordli, Tommaso Pippucci, Eva H. Brilstra, Shifteh Sattar, Erik H. Niks, Marie Line Jacquemont, Kees P.J. Braun, Karen Müller-Schlüter, Sanjay M. Sisodiya, Sarah Weckhuysen, Lysa Boissé Lomax, Sophie Julia, Brigitte Ricard-Mousnier, Mathilde Chipaux, Laura Licchetta, Gaetan Lesca, Bianca Berghuis, S. Krithika, Jamel Chelly, Renzo Guerrini, Hélène Catenoix, Annapurna Poduri, Melanie Jennesson, Pasquale Striano, Rikke S. Møller, Antonio Gambardella, Guillaume Achaz, Peter Uldall, Fabrice Bartolomei, Giuseppe d'Orsi, Laurence Faivre, Floor E. Jansen, An Sofie Schoonjans, Kevin Rostasy, Thomas Becher, Pavel Krsek, Julien Thevenon, Marjan J. A. van Kempen, Guido Rubboli, Cécile Marchal, Meral Balci, Boudewijn Gunning, Ilona Krey, Julitta de Bellescize, Veronique Darmency, Christopher J. Yuskaitis, Daniëlle de Jong, Giovanni Crichiutti, Paolo Tinuper, Katrien Stouffs, Valentin Sander, Anne-Sophie Lebre, Thomas Cloppenborg, Valerio Conti, Gabrielle Rudolf, Courtney Kiss, Eveline Hagebeuk, Caroline Nava, Eric LeGuern, Ilse Wegner, Christian Brandt, Martin Zenker, Simona Balestrini

المساهمون: Picard, Fabienne, Baldassari S., Picard F., Verbeek N.E., van Kempen M., Brilstra E.H., Lesca G., Conti V., Guerrini R., Bisulli F., Licchetta L., Pippucci T., Tinuper P., Hirsch E., de Saint Martin A., Chelly J., Rudolf G., Chipaux M., Ferrand-Sorbets S., Dorfmuller G., Sisodiya S., Balestrini S., Schoeler N., Hernandez-Hernandez L., Krithika S., Oegema R., Hagebeuk E., Gunning B., Deckers C., Berghuis B., Wegner I., Niks E., Jansen F.E., Braun K., de Jong D., Rubboli G., Talvik I., Sander V., Uldall P., Jacquemont M.-L., Nava C., Leguern E., Julia S., Gambardella A., d'Orsi G., Crichiutti G., Faivre L., Darmency V., Benova B., Krsek P., Biraben A., Lebre A.-S., Jennesson M., Sattar S., Marchal C., Nordli D.R., Lindstrom K., Striano P., Lomax L.B., Kiss C., Bartolomei F., Lepine A.F., Schoonjans A.-S., Stouffs K., Jansen A., Panagiotakaki E., Ricard-Mousnier B., Thevenon J., de Bellescize J., Catenoix H., Dorn T., Zenker M., Muller-Schluter K., Brandt C., Krey I., Polster T., Wolff M., Balci M., Rostasy K., Achaz G., Zacher P., Becher T., Cloppenborg T., Yuskaitis C.J., Weckhuysen S., Poduri A., Lemke J.R., Moller R.S., Baulac S., Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Genetics [Utrecht, the Netherlands], University Medical Center [Utrecht], Service de Génétique [HCL Groupement Hospitalier Est], Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Children's Hospital A. Meyer, Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Clinical and Experimental Epilepsy, University College of London [London] (UCL), Academic Center for Epileptology Kempenhaeghe & Maastricht UMC+ [Heeze], Danish Epilepsy Centre, Denmark and Aarhus University, Aarhus, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse], Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), FHU TRANSLAD (CHU de Dijon), Université de Bourgogne (UB), Service de Neurophysiologie Clinique (CHU Dijon), CHU Pontchaillou [Rennes], Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Epilepsie, sommeil et explorations fonctionnelles neuropédiatriques, Hospices Civils de Lyon (HCL)-Hôpital Femme Mère Enfant, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Université Bourgogne Franche-Comté [COMUE] (UBFC), Département d'Epilepsie, Sommeil et Neurophysiologie Pédiatrique [HCL, Lyon], Hospices Civils de Lyon (HCL), Institute of Human Genetics, University Hospital Magdeburg, Institut de Systématique, Evolution, Biodiversité (ISYEB ), Muséum national d'Histoire naturelle (MNHN)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles (UA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Groupement hospitalier Lyon-Est, Centre de recherche en neurosciences de Lyon (CRNL), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse]

المصدر: Genetics in Medicine (2018)
Genetics in medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M-L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A-S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A-S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics In Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2Test
Genetics in Medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d’Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics in Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2Test
Genetics in Medicine, 21(2), 398. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, DEPDC5, SUDEP, 030105 genetics & heredity, Bioinformatics, Loss of Function Mutation/genetics, Epilepsy, INDEL Mutation, Loss of Function Mutation, mTORC1 pathway, Genetics(clinical), Child, Genetics (clinical), Multiprotein Complexes/genetics, Brugada Syndrome, DNA Copy Number Variation, Brugada syndrome, INDEL Mutation/genetics, GTPase-Activating Proteins, NPRL3, Seizure, Phenotype, Pedigree, 3. Good health, Brugada Syndrome/genetics, Child, Preschool, Female, Human, Signal Transduction, DNA Copy Number Variations, Adolescent, Seizures/complications, Mechanistic Target of Rapamycin Complex 1/genetics, DNA Copy Number Variations/genetics, Mechanistic Target of Rapamycin Complex 1, Tumor Suppressor Proteins/genetics, Article, Focal cortical dysplasia, 03 medical and health sciences, Seizures, GTPase-Activating Proteins/genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic focal epilepsy, Epilepsy/complications, Repressor Proteins/genetics, business.industry, GTPase-Activating Protein, Tumor Suppressor Proteins, Infant, Newborn, Correction, Infant, Repressor Protein, Cortical dysplasia, medicine.disease, ddc:616.8, Repressor Proteins, 030104 developmental biology, Frontal lobe seizures, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Multiprotein Complexes, Multiprotein Complexe, Signal Transduction/genetics, Human medicine, business

وصف الملف: pdf; application/pdf; STAMPA; text/plain; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::981b64cbea60b6d54468d69c2530dcf1Test
https://archive-ouverte.unige.ch/unige:112563Test

المؤلفون: Simon, Michelle M, Greenaway, Simon, Dacquin, Romain, Djebali, Sophia, Estabel, Jeanne, Graw, Jochen, Ingham, Neil J, Jackson, Ian J, Lengeling, Andreas, Mandillo, Silvia, Marvel, Jacqueline, Meziane, Hamid, White, Jacqueline K, Preitner, Frédéric, Puk, Oliver, Roux, Michel, Adams, David J, Atkins, Sarah, Ayadi, Abdel, Becker, Lore, Blake, Andrew, Brooker, Debra, Cater, Heather, Fuchs, Helmut, Champy, Marie-France, Combe, Roy, Danecek, Petr, di Fenza, Armida, Gates, Hilary, Gerdin, Anna-Karin, Golini, Elisabetta, Hancock, John M, Hans, Wolfgang, Hölter, Sabine M, Gailus-Durner, Valérie, Hough, Tertius, Jurdic, Pierre, Keane, Thomas M, Morgan, Hugh, Müller, Werner, Neff, Frauke, Nicholson, George, Pasche, Bastian, Roberson, Laura-Anne, Rozman, Jan, Wells, Sara, Sanderson, Mark, Santos, Luis, Selloum, Mohammed, Shannon, Carl, Southwell, Anne, Tocchini-Valentini, Glauco P, Vancollie, Valerie E, Westerberg, Henrik, Wurst, Wolfgang, Zi, Min, Sorg, Tania, Yalcin, Binnaz, Ramirez-Solis, Ramiro, Steel, Karen P, Mallon, Ann-Marie, de Angelis, Martin Hrabě, Herault, Yann, Brown, Steve D M, Wong, Kim, Bedu, Elodie, Cartwright, Elizabeth J

المصدر: Genome biology 14(7), R82 (2013). doi:10.1186/gb-2013-14-7-r82

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Animals, Behavior, Animal, Disease Resistance: immunology, Eye: pathology, Female, Femur: diagnostic imaging, Genome: genetics, Hypersensitivity: immunology, INDEL Mutation: genetics, Killer Cells, Natural: immunology, Listeriosis: immunology, Listeriosis: microbiology, Male, Maze Learning, Mice, Inbred C57BL, Phenotype, Polymorphism, Single Nucleotide: genetics, Spleen: immunology, X-Ray Microtomography

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:23902802; info:eu-repo/semantics/altIdentifier/issn/1474-760X; info:eu-repo/semantics/altIdentifier/issn/1465-6914; info:eu-repo/semantics/altIdentifier/issn/1465-6906; info:eu-repo/semantics/altIdentifier/issn/1474-7596; https://pub.dzne.de/record/137164Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-03486%22Test

الإتاحة: https://doi.org/10.1186/gb-2013-14-7-r82Test
https://pub.dzne.de/record/137164Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-03486%22Test

المؤلفون: Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betül, Reutter, Heiko, Draaken, Markus, Ludwig, Michael, Altmüller, Janine, Frommolt, Peter, Stuart, Helen M., Ranjzad, Parisa, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nürnberg, Peter, Woolf, Adrian S.

المصدر: Weber , S , Thiele , H , Mir , S , Toliat , M R , Sozeri , B , Reutter , H , Draaken , M , Ludwig , M , Altmüller , J , Frommolt , P , Stuart , H M , Ranjzad , P , Hanley , N A , Jennings , R , Newman , W G , Wilcox , D T , Thiel , U , Schlingmann , K P , Beetz , R , Hoyer , P F , Konrad , M , Schaefer , F , Nürnberg , P & ....

مصطلحات موضوعية: Animals, Base Sequence, Consanguinity, Female, Frameshift Mutation/genetics, Humans, INDEL Mutation/genetics, Immunohistochemistry, Male, Metabolism, Inborn Errors/*genetics, Mice, Knockout, Models, Molecular, Prune Belly Syndrome/*genetics/pathology, Receptor, Muscarinic M3/deficiency/genetics, Sequence Homology, Nucleic Acid, Sex Factors, Urinary Bladder/embryology/pathology, Urinary Bladder Neck Obstruction/genetics/pathology

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.10.007Test
https://research.manchester.ac.uk/en/publications/0bf7f33c-0436-46bf-8a4d-ef8433120bc6Test
http://www.ncbi.nlm.nih.gov/pubmed/22077972Test

المؤلفون: Liu, T., Korantzopoulos, P., Xu, G., Shehata, M., Li, D., Wang, X., Li, G.

مصطلحات موضوعية: Adult, Aged, Atrial Fibrillation/epidemiology/*genetics/physiopathology, Case-Control Studies, Female, Humans, INDEL Mutation/*genetics, Male, Middle Aged, Peptidyl-Dipeptidase A/*genetics, Polymorphism, Genetic/genetics, Renin-Angiotensin System/physiology, Risk Factors

العلاقة: http://olympias.lib.uoi.gr/jspui/handle/123456789/23675Test

الإتاحة: http://olympias.lib.uoi.gr/jspui/handle/123456789/23675Test

المؤلفون: Gang Xu, Dong Li, Tong Liu, Michael Shehata, Panagiotis Korantzopoulos, Xunzhang Wang, Guangping Li

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Peptidyl-Dipeptidase A, Bioinformatics, Peptidyl-Dipeptidase A/*genetics, Renin-Angiotensin System, INDEL Mutation, Risk Factors, Physiology (medical), Internal medicine, Atrial Fibrillation, Medicine, Insertion deletion, Humans, Polymorphism, Genetic/genetics, Aged, Polymorphism, Genetic, biology, business.industry, Case-control study, Angiotensin-converting enzyme, Atrial fibrillation, Atrial Fibrillation/epidemiology/*genetics/physiopathology, Middle Aged, medicine.disease, Clinical trial, INDEL Mutation/*genetics, Endocrinology, Meta-analysis, Case-Control Studies, biology.protein, Dominant model, Female, Gene polymorphism, Renin-Angiotensin System/physiology, Cardiology and Cardiovascular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cb34bb3b79e1ba9ba3bf6720e1ebaffTest
http://olympias.lib.uoi.gr/jspui/handle/123456789/23675Test

المؤلفون: Raziye Akcılar, Ceylan Ayada, Sebahat Turgut, Fulya Akin, Günfer Turgut

مصطلحات موضوعية: Male, systolic blood pressure, genetic association, genotype, Angiotensinogen, cholesterol blood level, Blood Pressure, insulin blood level, low density lipoprotein cholesterol, chemistry.chemical_compound, Gene Frequency, INDEL Mutation, high density lipoprotein cholesterol, insulin resistance, Genotype, genetic polymorphism, Receptor, clinical article, biology, adult, article, General Medicine, Middle Aged, growth hormone blood level, female, Female, triacylglycerol, Acromegaly/enzymology/*genetics/physiopathology, Adult, Angiotensinogen/*genetics, Blood Pressure/genetics, Case-Control Studies, Gene Frequency/genetics, Genetic Predisposition to Disease, Humans, INDEL Mutation/*genetics, Peptidyl-Dipeptidase A/*genetics, Polymorphism, Single Nucleotide/*genetics, Receptor, Angiotensin, Type 1/*genetics, Angiotensin converting enzyme, medicine.medical_specialty, insulin, hypertension, angiotensin 1 receptor, dipeptidyl carboxypeptidase, AT1-receptor, Peptidyl-Dipeptidase A, gene frequency, Polymorphism, Single Nucleotide, Receptor, Angiotensin, Type 1, protein denaturation, male, Internal medicine, Acromegaly, Genetics, medicine, controlled study, human, Polymorphism, Molecular Biology, Angiotensin II receptor type 1, Triglyceride, diastolic blood pressure, Angiotensin-converting enzyme, medicine.disease, triacylglycerol blood level, Angiotensin II, somatomedin C, body mass, Endocrinology, Blood pressure, glucose blood level, chemistry, biology.protein, homozygosity

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e76bb23295505227da5da7e4e11c32Test
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/6129Test