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1دورية أكاديمية
المؤلفون: Nguyen, Karine, Broucqsault, Natacha, Chaix, Charlene, Roche, Stéphane, Robin, Jerome D, Vovan, Catherine, Gerard, Laurene, Mégarbané, Andre, Urtizberea, Jon-Andoni, Bellance, Remi, Barnérias, Christine, David, Albert, Eymard, Bruno, Fradin, Melanie, Manel, Veronique, Sacconi, Sabrina, Tiffreau, Vincent, Zagnoli, Fabien, Cuisset, Jean-Marie, Salort-Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafaelle, Lévy, Nicolas, Magdinier, Frederique
المساهمون: Univ. Littoral Côte d’Opale, Univ. Artois, Université de Lille, Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - EA 7369, Marseille medical genetics - Centre de génétique médicale de Marseille MMG, CHU Marseille, Département de génétique médicale Hôpital de la Timone - APHM, Hôpital Pierre Zobda-Quitman CHU de la Martinique, Assistance Publique - Hôpitaux de Marseille APHM, Institut Jérôme Lejeune, Hôpital Marin d'Hendaye, Assistance publique - Hôpitaux de Paris (AP-HP) AP-HP, CHU de la Martinique Fort de France, Hôpital Necker - Enfants Malades AP-HP, Filière Neuromusculaire FILNEMUS, Centre hospitalier universitaire de Nantes CHU Nantes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Service de génétique clinique Rennes, Hôpital Femme Mère Enfant CHU - HCL HFME, Hospices Civils de Lyon HCL, Université Côte d'Azur UCA, Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369, Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 URePSSS, Centre Hospitalier Régional Universitaire de Brest CHRU Brest, Service de Neuro-pédiatrie Lille, Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Neurologie, maladies neuro-musculaires Hôpital de la Timone - APHM, Hôpital de la Timone CHU - APHM TIMONE
وصف الملف: application/rdf+xml; charset=utf-8; application/pdf
العلاقة: Journal of Medical Genetics; J. Med. Genet.; http://hdl.handle.net/20.500.12210/12279Test
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2دورية أكاديمية
المؤلفون: Hammann, Nicole, Lenz, Dominic, Baric, Ivo, Crushell, Ellen, Vici, Carlo Dionisi, Distelmaier, Felix, Feillet, Francois, Freisinger, Peter, Hempel, Maja, Khoreva, Anna L., Laass, Martin W., Lacassie, Yves, Lainka, Elke, Larson-Nath, Catherine, Li, Zhongdie, Lipiński, Patryk, Lurz, Eberhard, Mégarbané, André, Nobre, Susana, Olivieri, Giorgia, Peters, Bianca, Prontera, Paolo, Schlieben, Lea D., Seroogy, Christine M., Sobacchi, Cristina, Suzuki, Shigeru, Tran, Christel, Vockley, Jerry, Wang, Jian-She, Wagner, Matias, Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Staufner, Christian
المساهمون: Dietmar Hopp Foundation
المصدر: Molecular Genetics and Metabolism ; volume 141, issue 3, page 108118 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.108118Test
https://api.elsevier.com/content/article/PII:S1096719223007485?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719223007485?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Palmer, Elizabeth, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan, Chedrawi, Aziza, Hashem, Mais, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer, Sands, Tristan, Wilson, Golder, Silvertooth, Erin, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein, Ockeloen, Charlotte, Pfundt, Rolph, Kroft, Sanne, Field, Michael, Laranjeira, Francisco, Fortuna, Ana, Soares, Ana, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe, Blazo, Maria, Bijlsma, Emilia, Rosenfeld, Jill, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb, Armstrong, Ruth, Kalscheuer, Vera, Bird, Lynne
المصدر: Molecular Psychiatry, vol 28, iss 2
مصطلحات موضوعية: Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels
وصف الملف: application/pdf
العلاقة: qt6039092w; https://escholarship.org/uc/item/6039092wTest
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4دورية أكاديمية
المؤلفون: Al-Fata Soulaima, Masri Marwa, Hage Pierre, Hamod Dany, Diab Nabil, Ghanem Soha, Megarbane Andre, El-Khoury Riyad, Sacy Robert, Mansour Hicham*
المصدر: SVOA Paediatrics 2(2) 31-35
مصطلحات موضوعية: TK2 gene, Exome, Myopathy, Mitochondrial Disease, COVID-19
العلاقة: https://zenodo.org/record/7698653Test; https://doi.org/10.58624/SVOAPD.2023.02.029Test; oai:zenodo.org:7698653
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5دورية أكاديمية
المؤلفون: van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A. J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M. E. Suzanne, Lichty, Angie, Mannens, Marcel M. A. M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske
المصدر: van Jaarsveld , R H , Reilly , J , Cornips , M-C , Hadders , M A , Agolini , E , Ahimaz , P , Anyane-Yeboa , K , Bellanger , S A , van Binsbergen , E , van den Boogaard , M-J , Brischoux-Boucher , E , Caylor , R C , Ciolfi , A , van Essen , T A J , Fontana , P , Hopman , S , Iascone , M , Javier , M M , Kamsteeg , E-J , Kerkhof , J , Kido , J , Kim , H-G ....
الإتاحة: https://doi.org/10.1016/j.gim.2022.09.006Test
https://research.vumc.nl/en/publications/3b04e7e5-7564-479a-aa70-2dd1d5f307ddTest
http://www.scopus.com/inward/record.url?scp=85141320488&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: van Jaarsveld, Richard H, Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A, Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C, Ciolfi, Andrea, van Essen, Ton A J, Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M, Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A, Lewis, M E Suzanne, Lichty, Angie, Mannens, Marcel M A M, Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A, Yosovich, Keren, Yuskaitis, Christopher J, Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske
المساهمون: Genetica Sectie Genoomdiagnostiek, CMM Groep Lens, Cancer, Child Health, Genetica Klinische Genetica, Brain
مصطلحات موضوعية: Human Genetics, KDM2B, MDEMs, Methylation signatures, Neurodevelopmental disorders, Genetics(clinical), Journal Article
وصف الملف: application/pdf
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7دورية أكاديمية
المؤلفون: Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S, Chedrawi, Aziza, Hashem, Mais O, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Warde, Marie-Thérèse Abi, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa T, Rohena, Luis, Willemsen, Marjolein H, Ockeloen, Charlotte W, Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David, Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K, Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M
المصدر: CLCN4 concortium , Pusch , M , Picollo , A , Forwood , C , Nguyen , M H , Suckow , V , Gibbons , J , Hoff , A , Sigfrid , L , Megarbane , A , Nizon , M , Cogné , B , Beneteau , C , Alkuraya , F S , Chedrawi , A , Hashem , M O , Stamberger , H , Weckhuysen , S , Vanlander , A , Ceulemans , B , Rajagopalan , S , Nunn , K , Arpin , S , Raynaud , M , Motter ....
مصطلحات موضوعية: Chloride Channels/genetics, Female, Genes, X-Linked, Humans, Male, Mutation, Missense, Neurodevelopmental Disorders/genetics, Phenotype
الإتاحة: https://doi.org/10.1038/s41380-022-01852-9Test
https://research.manchester.ac.uk/en/publications/d007fd29-5377-4673-a74d-36e82e68899aTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000884630500002&DestLinkType=FullRecord&DestApp=WOSTest
http://www.scopus.com/inward/record.url?scp=85141946399&partnerID=8YFLogxKTest -
8دورية أكاديمية
المؤلفون: Shan, Jingxuan, Megarbane, André, Chouchane, Aziz, Karthik, Deepak, Temanni, Ramzi, Romero, Atilio Reyes, Hua, Huiying, Pan, Chun, Chen, Xixi, Subramanian, Murugan, Saad, Chadi, Mbarek, Hamdi, Mehawej, Cybel, Chouery, Eliane, Abuaqel, Sirin W., Dömling, Alexander, Remadi, Sami, Yaghi, Cesar, Li, Pu, Chouchane, Lotfi
المصدر: Shan , J , Megarbane , A , Chouchane , A , Karthik , D , Temanni , R , Romero , A R , Hua , H , Pan , C , Chen , X , Subramanian , M , Saad , C , Mbarek , H , Mehawej , C , Chouery , E , Abuaqel , S W , Dömling , A , Remadi , S , Yaghi , C , Li , P & Chouchane , L 2023 , ' Genetic predisposition to porto-sinusoidal vascular disorder : A functional genomic-based, multigenerational family study ' , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/hep.32735Test
https://hdl.handle.net/11370/d09352ba-1531-43cd-a1a2-2ff122dd7dffTest
https://research.rug.nl/en/publications/d09352ba-1531-43cd-a1a2-2ff122dd7dffTest
https://pure.rug.nl/ws/files/607692500/Genetic_predisposition_to_porto_sinusoidal.18_1_.pdfTest
http://www.scopus.com/inward/record.url?scp=85137341716&partnerID=8YFLogxKTest -
9دورية أكاديمية
المؤلفون: Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogne, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stephanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Benedicte, Warde, Marie-Therese Abi, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Polsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zoe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikael, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.
المصدر: MOLECULAR PSYCHIATRY ; ISSN: 1359-4184 ; ISSN: 1476-5578
مصطلحات موضوعية: Medicine and Health Sciences, LINKED MENTAL-RETARDATION, LYSOSOMAL STORAGE DISEASE, CLC CHLORIDE, CHANNELS, EXCHANGER, GENE, ASSOCIATION, DISRUPTION, PHENOTYPE, VARIANTS, MUTATION
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01GSSG03KWN73EZB7N9ZD2YGRKTest; http://hdl.handle.net/1854/LU-01GSSG03KWN73EZB7N9ZD2YGRKTest; http://dx.doi.org/10.1038/s41380-022-01852-9Test; https://biblio.ugent.be/publication/01GSSG03KWN73EZB7N9ZD2YGRK/file/01GSSG9MWHEJ9VCXRGSRPZFCEVTest
الإتاحة: https://doi.org/10.1038/s41380-022-01852-9Test
https://biblio.ugent.be/publication/01GSSG03KWN73EZB7N9ZD2YGRKTest
http://hdl.handle.net/1854/LU-01GSSG03KWN73EZB7N9ZD2YGRKTest
https://biblio.ugent.be/publication/01GSSG03KWN73EZB7N9ZD2YGRK/file/01GSSG9MWHEJ9VCXRGSRPZFCEVTest -
10دورية أكاديمية
المؤلفون: Shan, Jingxuan, Megarbane, André, Chouchane, Aziz, Karthik, Deepak, Temanni, Ramzi, Reyes Romero, Atilio, Hua, Huiying, Pan, Chun, Chen, Xixi, Subramanian, Murugan, Saad, Chadi, Mbarek, Hamdi, Mehawej, Cybel, Chouery, Eliane, Abuaqel, Sirin W, Dömling, Alexander, Remadi, Sami, Yaghi, Cesar, Li, Pu, Chouchane, Lotfi
المصدر: Shan, Jingxuan; Megarbane, André; Chouchane, Aziz; Karthik, Deepak; Temanni, Ramzi; Reyes Romero, Atilio; Hua, Huiying; Pan, Chun; Chen, Xixi; Subramanian, Murugan; Saad, Chadi; Mbarek, Hamdi; Mehawej, Cybel; Chouery, Eliane; Abuaqel, Sirin W; Dömling, Alexander; Remadi, Sami; Yaghi, Cesar; Li, Pu and Chouchane, Lotfi (2023). Genetic predisposition to porto-sinusoidal vascular disorder: a functional genomic-based, multi-generational family study. Hepatology, 77(2), pp. 501-511. Wiley 10.1002/hep.32735
مصطلحات موضوعية: 570 Life sciences, biology, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://boris.unibe.ch/172273Test/
النص الكامل