المؤلفون: Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M.C., Belligni, E.F., Digilio, M.C., Faletra, F., Ferrero, G.B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M.D., Petit, F., Renieri, A., Romana, S., Topa, A., Vermeesch, J.R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N., Smits, G.

المصدر: Genome medicine, vol. 9, no. 1, pp. 67

مصطلحات موضوعية: Animals, Child, Developmental Disabilities/genetics, Developmental Disabilities/metabolism, Exons, Female, Guanylate Kinases/genetics, Humans, Intellectual Disability/genetics, Intellectual Disability/metabolism, Male, Membrane Proteins/genetics, Mice, Promoter Regions, Genetic, Tumor Suppressor Proteins/genetics, DLG2, Functional genomics, Intellectual disability, Neurodevelopmental disorders, Promoters

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28724449; info:eu-repo/semantics/altIdentifier/eissn/1756-994X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_EBFCA5108DAA6; https://serval.unil.ch/notice/serval:BIB_EBFCA5108DAATest; urn:issn:1756-994X; https://serval.unil.ch/resource/serval:BIB_EBFCA5108DAA.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_EBFCA5108DAA6Test

الإتاحة: https://doi.org/10.1186/s13073-017-0452-yTest
https://serval.unil.ch/notice/serval:BIB_EBFCA5108DAATest
https://serval.unil.ch/resource/serval:BIB_EBFCA5108DAA.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_EBFCA5108DAA6Test

المؤلفون: Henry Houlden, María José Sánchez-Soler, Anna Jansen, Renske Oegema, Pier G. Mastroberardino, Kalthoum Tlili-Graiess, Javad Akhondian, Katherine A. Fawcett, Marjon van Slegtenhorst, Lisbeth Turner, Chiara Milanese, Linda S. de Vries, Nadia Bahi-Buisson, Grazia M.S. Mancini, Rachel Schot, Stephanie A. Coury, Stephanie Efthymiou, Esra Börklü-Yücel, Abdulmalik A. Alwabel, Nebal Waill Saadi, Peter G. J. Nikkels, Daniela T. Pilz, Amy Crunk, Aida M. Bertoli-Avella, Ehsan Ghayoor Karimiani, Andrew E. Fry, Robert M. Verdijk, Johan M. Kros, Faisal Zafar, Juliann M. Savatt, Hülya Kayserili, Wen-Hann Tan, Reza Maroofian, Esmee Kasteleijn, Alexandra Afenjar, Marco Post, Daphne J. Smits, Maarten H. Lequin, Richard E. Person, Nuzhat Rana, Amal Al Hashem, Nataša Jovanov Milošević, Peter J. van der Spek, Farah Bibi, Boris Keren, Mohammad Doosti, Laura Vandervore, Stefanie Brock, Maarten Fornerod

المساهمون: Clinical Genetics, Molecular Genetics, Clinical Chemistry, Cell biology, Pathology, Clinical Biology, Faculty of Medicine and Pharmacy, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: American Journal of Human Genetics, 105(6), 1126-1147. Cell Press
Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, Regulator, Brain / abnormalities, calnexin, epilepsy, hydrogen peroxide, microcephaly, mitochondria-associated membrane, PDI, polymicrogyria, redox, SERCA2, TMX2, Fibroblasts / metabolism, Transcriptome, Cohort Studies, 0302 clinical medicine, Thioredoxins, Developmental Disabilities / metabolism, Genetics(clinical), Skin / metabolism, Child, Genetics (clinical), Skin, Brain Diseases, biology, Chemistry, Mitochondria / metabolism, Brain, Prognosis, Membrane Proteins / metabolism, Brain Diseases / metabolism, Cell biology, Mitochondria, Thioredoxins / genetics, Developmental Disabilities / genetics, Child, Preschool, Protein folding, Female, Thioredoxin, Oxidation-Reduction, Adult, Brain Diseases / genetics, Fibroblasts / pathology, Protein Disulfide-Isomerase Family, Adolescent, Article, 03 medical and health sciences, Brain Diseases / pathology, Calnexin, Genetics, Humans, Developmental Disabilities / pathology, Thioredoxins / metabolism, Membrane Proteins / genetics, Skin / pathology, Endoplasmic reticulum, Infant, Newborn, Membrane Proteins, Infant, Fibroblasts, Mitochondria / pathology, 030104 developmental biology, Chaperone (protein), biology.protein, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718663da963cc3703f35cd8dc58dc977Test
https://urn.nsk.hr/urn:nbn:hr:105:093095Test

المساهمون: Eun Sook Park, Chang-il Park, Jeon-Soo Shin, In-Hong Choi, Kyung Seon Choi, Park, Eun Sook, Park, Chang Il, Shin, Jeon Soo, Choi, In Hong

مصطلحات موضوعية: Antibodies, Monoclonal, Blotting, Western, Brain/pathology, Cerebral Palsy/metabolism, Cerebral Palsy/pathology, Child, Preschool, Developmental Disabilities/metabolism, Developmental Disabilities/pathology, Electrophoresis, Polyacrylamide Gel, Enzyme-Linked Immunosorbent Assay, Female, Flow Cytometry, Humans, Infant, Magnetic Resonance Imaging, Male, Nerve Growth Factors, S100 Calcium Binding Protein beta Subunit, S100 Proteins/biosynthesis, S100 Proteins/blood, S100B over-expression, Cerebral palsy, Delayed development

وصف الملف: 190~196

العلاقة: BRAIN & DEVELOPMENT; J00386; OAK-2004-01061; https://ir.ymlib.yonsei.ac.kr/handle/22282913/111662Test; http://www.sciencedirect.com/science/article/pii/S0387760403001268Test; T200401190; BRAIN & DEVELOPMENT, Vol.26(3) : 190-196, 2004

الإتاحة: https://doi.org/10.1016/S0387-7604Test(03)00126-8
https://ir.ymlib.yonsei.ac.kr/handle/22282913/111662Test
http://www.sciencedirect.com/science/article/pii/S0387760403001268Test

المؤلفون: Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco-Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, Geneviève, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu-Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier-Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh-Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C Geoffrey, Rauch, Anita, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine, Geneviève, David, Julia, Julia, Woods, C. Geoffrey, Mordel, S, Schaeffer, Stéphane, Dupas, S., Laville, Marie-Alice, Chapon, Françoise, Allouche, S., Mordel, Patrick, Dupas, Quentin, Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gérard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

المساهمون: Université libre de Bruxelles (ULB), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), University of Turin, IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo' [Trieste], Service de Génétique Clinique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Queen Elizabeth University Hospital (Glasgow), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Università degli Studi di Siena = University of Siena (UNISI), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sahlgrenska University Hospital [Gothenburg], Université Catholique de Louvain = Catholic University of Louvain (UCL), Universiteit Gent = Ghent University [Belgium] (UGENT), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Unité fonctionnelle de génétique clinique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Antwerp (UA), Institut de Pathologie et Génétique [Gosselies] (I.P.G.), Service de Génétique, Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Centre for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven)-University Hospitals Leuven [Leuven], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Clermont-Ferrand, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Service de génétique médicale, CHU Amiens-Picardie, Service Neuropédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre de Génétique Humaine, Université de Liège-CHU Liège, Service de pédiatre-Néonatologie, CH Villefranche s/Saone, Centre de recherche en neurosciences de Lyon (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), Hôpital de Hautepierre [Strasbourg], Medical Genetics, Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Service d'imagerie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Département de génétique, Allergy Unit - Department of Dermatology, University of Zürich [Zürich] (UZH), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Department of Biology [Utah], University of Utah, Laboratoire Evolution, Génomes et Spéciation (LEGS), Centre National de la Recherche Scientifique (CNRS), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de biochimie [CHU Caen], Signalisation, électrophysiologie et imagerie des lésions d’ischémie-reperfusion myocardique (SEILIRM), Département Génétique Médicale-Maternité, Université de Lorraine (UL), Center for Medical Genetics, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Department of Human Genetics, Radboud University Medical Center [Nijmegen], AI-lab, Vakgroep Computerwetenschappen, Universiteit Gent [Ghent], gerard, marion, Università degli studi di Torino = University of Turin (UNITO), Universiteit Gent = Ghent University (UGENT), Informatics and Applied Informatics

المصدر: Genome Medicine
Genome Medicine, BioMed Central, 2017, 9, pp.67. ⟨10.1186/s13073-017-0452-y⟩
Genome medicine, vol. 9, no. 1, pp. 67
Genome Medicine, 2017, 9, pp.67. ⟨10.1186/s13073-017-0452-y⟩
Genome Medicine, Vol 9, Iss 1, Pp 1-20 (2017)
Genome medicine, 9 (1

مصطلحات موضوعية: Male, 0301 basic medicine, Guanylate Kinases/genetics, Developmental Disabilities, Intellectual disability, lcsh:Medicine, ASPM, brain imaging, brain development, Tumor Suppressor Proteins -- genetics, Genome, Mice, Intellectual Disability -- genetics -- metabolism, Global developmental delay, Copy-number variation, Promoter Regions, Genetic, Child, Genetics (clinical), Epigenomics, Genetics, ATP6 deletion, Membrane Proteins -- genetics, primary microcephaly, Neurodevelopmental disorders, food and beverages, Functional genomics, Exons, DLG2, Promoters, Animals, Female, Guanylate Kinases, Humans, Intellectual Disability, Membrane Proteins, Tumor Suppressor Proteins, Molecular Medicine, Molecular Biology, Sciences bio-médicales et agricoles, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Guanylate Kinases -- genetics, lcsh:QH426-470, Developmental Disabilities/genetics, Developmental Disabilities/metabolism, Intellectual Disability/genetics, Intellectual Disability/metabolism, Membrane Proteins/genetics, Tumor Suppressor Proteins/genetics, Genomics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Promoter Regions, 03 medical and health sciences, Genetic, Complex V deficiency, Next generation sequencing, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Gene, MCPH, Developmental Disabilities -- genetics -- metabolism, Research, lcsh:R, Human genetics, Mitochondrial disease, lcsh:Genetics, 030104 developmental biology, centrosome, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, NARP syndrome

وصف الملف: application/pdf; 1 full-text file(s): application/pdf; Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a577128fe8e8dc2f3734aca318cfa5Test
https://hal-normandie-univ.archives-ouvertes.fr/hal-02268433Test

المؤلفون: Stockebrand, Malte, Nejad, Ali Sasani, Neu, Axel, Kharbanda, Kusum K, Sauter, Kathrin, Schillemeit, Stefan, Isbrandt, Dirk, Choe, Chi-Un

المصدر: Amino acids 48(8), 2025-2039 (2016). doi:10.1007/s00726-016-2202-7

مصطلحات موضوعية: info:eu-repo/classification/ddc/540, Adipose Tissue, White: metabolism, White: pathology, Amidinotransferases: deficiency, Amidinotransferases: genetics, Amidinotransferases: metabolism, Amino Acid Metabolism, Inborn Errors: genetics, Inborn Errors: metabolism, Inborn Errors: pathology, Animals, Developmental Disabilities: genetics, Developmental Disabilities: metabolism, Developmental Disabilities: pathology, Intellectual Disability: genetics, Intellectual Disability: metabolism, Intellectual Disability: pathology, Metabolome, Mice, Knockout, Muscle, Skeletal: metabolism, Skeletal: pathology, Obesity: chemically induced, Obesity: genetics, Obesity: metabolism, Obesity: pathology, Oxidative Phosphorylation, Phosphocreatine: genetics

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:26940723; info:eu-repo/semantics/altIdentifier/issn/0939-4451; info:eu-repo/semantics/altIdentifier/issn/1438-2199; https://pub.dzne.de/record/138700Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-05022%22Test

الإتاحة: https://doi.org/10.1007/s00726-016-2202-7Test
https://pub.dzne.de/record/138700Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-05022%22Test