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'학술논문'
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1~20
Academic Journal
Anneleen Heldens; Milton Antwi; Louis Onghena; Tim Meese; Yannick Gansemans; Joél Smet; Ellen Dupont; Xavier Verhelst; Sarah Raevens; Hans Van Vlierberghe; Arnaud Vanlander; Filip Van Nieuwerburgh; Lindsey Devisscher; Ruth De Bruyne; Anja Geerts; Sander Lefere
JHEP Reports, Vol 7, Iss 6, Pp 101404- (2025)
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Katrien Vanderwee; Ann Van Hecke; Caroline Verdonck; Kristof Eeckloo; Sara Dequeker; Sabine Van daele; Veerle Duprez; Annemie Charles; Freya Couvin; John Crombez; Lieven De Geyter; Ann De Guchtenaere; Delphine De Smedt; Caroline Dolieslager; Patricia Fruyt; Lien Goossens; Ester Steffens; Els Vandecruys; Arnaud Vanlander
BMJ Open, Vol 15, Iss 6 (2025)
Academic Journal
Vicente A. Yépez; Mirjana Gusic; Robert Kopajtich; Christian Mertes; Nicholas H. Smith; Charlotte L. Alston; Rui Ban; Skadi Beblo; Riccardo Berutti; Holger Blessing; Elżbieta Ciara; Felix Distelmaier; Peter Freisinger; Johannes Häberle; Susan J. Hayflick; Maja Hempel; Yulia S. Itkis; Yoshihito Kishita; Thomas Klopstock; Tatiana D. Krylova; Costanza Lamperti; Dominic Lenz; Christine Makowski; Signe Mosegaard; Michaela F. Müller; Gerard Muñoz-Pujol; Agnieszka Nadel; Akira Ohtake; Yasushi Okazaki; Elena Procopio; Thomas Schwarzmayr; Joél Smet; Christian Staufner; Sarah L. Stenton; Tim M. Strom; Caterina Terrile; Frederic Tort; Rudy Van Coster; Arnaud Vanlander; Matias Wagner; Manting Xu; Fang Fang; Daniele Ghezzi; Johannes A. Mayr; Dorota Piekutowska-Abramczuk; Antonia Ribes; Agnès Rötig; Robert W. Taylor; Saskia B. Wortmann; Kei Murayama; Thomas Meitinger; Julien Gagneur; Holger Prokisch
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
Academic Journal
Levi Hoste; Agnieszka Prytula; Jo Dehoorne; Ruth De Bruyne; Stephanie Van Biervliet; Kathleen De Waele; Evelyn Maes; Victoria Bordon; Arnaud Vanlander; Karlien Claes; Johan Vande Walle; Petra Schelstraete; Sabine Van daele; Filomeen Haerynck
Frontiers in Pediatrics, Vol 11 (2023)
Academic Journal
Sara Capiau; Joél Smet; Boel De Paepe; Yilmaz Yildiz; Mutluay Arslan; Olivier Stevens; Maxime Verschoore; Hedwig Stepman; Sara Seneca; Arnaud Vanlander
Cells, Vol 11, Iss 3, p 489 (2022)
Academic Journal
Kim Vancampenhout; Ben Caljon; Claudia Spits; Katrien Stouffs; An Jonckheere; Linda De Meirleir; Willy Lissens; Arnaud Vanlander; Joél Smet; Boel De Paepe; Rudy Van Coster; Sara Seneca
PLoS ONE, Vol 9, Iss 11, p e112950 (2014)
Academic Journal
Clinical Genetics. 108:612-614
Academic Journal
Cécile Brachet; Alexander Laemmle; Martine Cools; Kay-Sara Sauter; Elfride De Baere; Arnaud Vanlander; Amit V Pandey; Therina du Toit; Clarissa D Voegel; Claudine Heinrichs; Hannah Verdin; Christa E Flück
Brachet, Cécile; Laemmle, Alexander; Cools, Martine; Sauter, Kay-Sara; De Baere, Elfride; Vanlander, Arnaud; Pandey, Amit V; Du Toit, Therina; Voegel, Clarissa D; Heinrichs, Claudine; Verdin, Hannah; Flück, Christa E (2024). Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant. European journal of endocrinology, 191(2), pp. 144-155. Oxford Academic 10.1093/ejendo/lvae090
EUROPEAN JOURNAL OF ENDOCRINOLOGY
EUROPEAN JOURNAL OF ENDOCRINOLOGY
Academic Journal
Elizabeth E. Palmer; Michael Pusch; Alessandra Picollo; Caitlin Forwood; Matthew H. Nguyen; Vanessa Suckow; Jessica Gibbons; Alva Hoff; Lisa Sigfrid; Andre Megarbane; Mathilde Nizon; Benjamin Cogné; Claire Beneteau; Fowzan S. Alkuraya; Aziza Chedrawi; Mais O. Hashem; Hannah Stamberger; Sarah Weckhuysen; Arnaud Vanlander; Berten Ceulemans; Sulekha Rajagopalan; Kenneth Nunn; Stéphanie Arpin; Martine Raynaud; Constance S. Motter; Catherine Ward-Melver; Katrien Janssens; Marije Meuwissen; Diane Beysen; Nicola Dikow; Mona Grimmel; Tobias B. Haack; Emma Clement; Amy McTague; David Hunt; Sharron Townshend; Michelle Ward; Linda J. Richards; Cas Simons; Gregory Costain; Lucie Dupuis; Roberto Mendoza-Londono; Tracy Dudding-Byth; Jackie Boyle; Carol Saunders; Emily Fleming; Salima El Chehadeh; Marie-Aude Spitz; Amelie Piton; Bénédicte Gerard; Marie-Thérèse Abi Warde; Gillian Rea; Caoimhe McKenna; Sofia Douzgou; Siddharth Banka; Cigdem Akman; Jennifer M. Bain; Tristan T. Sands; Golder N. Wilson; Erin J. Silvertooth; Lauren Miller; Damien Lederer; Rani Sachdev; Rebecca Macintosh; Olivier Monestier; Deniz Karadurmus; Felicity Collins; Melissa Carter; Luis Rohena; Marjolein H. Willemsen; Charlotte W. Ockeloen; Rolph Pfundt; Sanne D. Kroft; Michael Field; Francisco E. R. Laranjeira; Ana M. Fortuna; Ana R. Soares; Vincent Michaud; Sophie Naudion; Sailaja Golla; David D. Weaver; Lynne M. Bird; Jennifer Friedman; Virginia Clowes; Shelagh Joss; Laura Pölsler; Philippe M. Campeau; Maria Blazo; Emilia K. Bijlsma; Jill A. Rosenfeld; Christian Beetz; Zöe Powis; Kirsty McWalter; Tracy Brandt; Erin Torti; Mikaël Mathot; Shekeeb S. Mohammad; Ruth Armstrong; Vera M. Kalscheuer
Mol Psychiatry
Molecular psychiatry (2022). doi:10.1038/s41380-022-01852-9
info:cnr-pdr/source/autori: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./titolo:Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition/doi:10.1038%2Fs41380-022-01852-9/rivista:Molecular psychiatry/anno:2022/pagina_da:/pagina_a:/intervallo_pagine:/volume
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2023)
Molecular psychiatry
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, C S, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Grimmel, M, Haack, T B, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, L J, Simons, C, Costain, G, Dupuis, L, Mendoza-Londono, R, Dudding-Byth, T, Boyle, J, Fleming, E, El Chehadeh, S, Spitz, M-A, Piton, A, Gerard, B, Warde, M-T A, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, J M, Sands, T T, Wilson, G N, Silvertooth, E J, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M T, Rohena, L, Willemsen, M H, Ockeloen, C W, Pfundt, R, Kroft, S D, Field, M, Laranjeira, F E R, Fortuna, A M, Soares, A R, Michaud, V, Naudion, S, Golla, S, Weaver, D, Bird, L M, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, P M, Blazo, M, Bijlsma, E K, Rosenfeld, J A, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, S S, Armstrong, R & Kalscheuer, V M 2023, 'Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition', Molecular psychiatry, vol. 28, no. 2, pp. 668-697. https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, vol 28, iss 2
MOLECULAR PSYCHIATRY
Molecular psychiatry (2022). doi:10.1038/s41380-022-01852-9
info:cnr-pdr/source/autori: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./titolo:Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition/doi:10.1038%2Fs41380-022-01852-9/rivista:Molecular psychiatry/anno:2022/pagina_da:/pagina_a:/intervallo_pagine:/volume
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2023)
Molecular psychiatry
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, C S, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Grimmel, M, Haack, T B, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, L J, Simons, C, Costain, G, Dupuis, L, Mendoza-Londono, R, Dudding-Byth, T, Boyle, J, Fleming, E, El Chehadeh, S, Spitz, M-A, Piton, A, Gerard, B, Warde, M-T A, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, J M, Sands, T T, Wilson, G N, Silvertooth, E J, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M T, Rohena, L, Willemsen, M H, Ockeloen, C W, Pfundt, R, Kroft, S D, Field, M, Laranjeira, F E R, Fortuna, A M, Soares, A R, Michaud, V, Naudion, S, Golla, S, Weaver, D, Bird, L M, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, P M, Blazo, M, Bijlsma, E K, Rosenfeld, J A, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, S S, Armstrong, R & Kalscheuer, V M 2023, 'Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition', Molecular psychiatry, vol. 28, no. 2, pp. 668-697. https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, vol 28, iss 2
MOLECULAR PSYCHIATRY
Academic Journal
Pediatr. Res., DOI: 10.1038/s41390-022-02169-7 (2022)
PEDIATRIC RESEARCH
PEDIATRIC RESEARCH
Academic Journal
Eva Z. Jacobs; Kathleen Brown; Melissa C. Byler; Erika D'haenens; Annelies Dheedene; Lindsay B. Henderson; Jennifer B. Humberson; Richard H. van Jaarsveld; Farah Kanani; Robert Roger Lebel; Francisca Millan; Renske Oegema; Ann Oostra; Michael J. Parker; Lindsay Rhodes; Margarita Saenz; Laurie H. Seaver; Yue Si; Arnaud Vanlander; Sarah Vergult; Bert Callewaert
Clinical Genetics. 99:259-268
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Elise Vantroys; Austin Larson; Marisa Friederich; Kaz Knight; Michael A. Swanson; Christopher A. Powell; Joél Smet; Sarah Vergult; Boel De Paepe; Sara Seneca; Herbert Roeyers; Björn Menten; Michal Minczuk; Arnaud Vanlander; Johan Van Hove; Rudy Van Coster
Mol Genet Metab
MOLECULAR GENETICS AND METABOLISM
MOLECULAR GENETICS AND METABOLISM
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Sara Seneca; Kim Vancampenhout; Rudy Van Coster; Joél Smet; Willy Lissens; Arnaud Vanlander; Boel De Paepe; An Jonckheere; Katrien Stouffs; Linda De Meirleir
European Journal of Human Genetics. 23:41-48
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Laila Selim; Dina Mehaney; Rudy Van Coster; Sawsan Abdel Hadi; Iman Gamal; Mariane Youssry; Amira El Badawya; Arnaud Vanlander; Joel Smét; Elien De Latter; Katrien Vandemeulebroecke; Doaa Abdo; Gina Nakhla; Mohamed Mostafa; Daphna Habets; Jaap Bakker; Amr Abdel Bary
Mitochondrion. 24:S20
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