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1 Ergebnisse
1
Functional and clinical studies reveal pathophysiological c..:
Palmer, Elizabeth E
;
Pusch, Michael
;
Picollo, Alessandra
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41380-022-01852-9. , 2023
Link:
https://hal.science/hal-04284872
RT Journal T1
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
UL https://suche.suub.uni-bremen.de/peid=base-ftccsdartic:oai:HAL:hal-04284872v1&Exemplar=1&LAN=DE A1 Palmer, Elizabeth E A1 Pusch, Michael A1 Picollo, Alessandra A1 Forwood, Caitlin A1 Nguyen, Matthew H A1 Suckow, Vanessa A1 Gibbons, Jessica A1 Hoff, Alva A1 Sigfrid, Lisa A1 Megarbane, Andre A1 Nizon, Mathilde A1 Cogné, Benjamin A1 Beneteau, Claire A1 Alkuraya, Fowzan S A1 Chedrawi, Aziza A1 Hashem, Mais O A1 Stamberger, Hannah A1 Weckhuysen, Sarah A1 Vanlander, Arnaud A1 Ceulemans, Berten A1 Rajagopalan, Sulekha A1 Nunn, Kenneth A1 Arpin, Stéphanie A1 Raynaud, Martine A1 Motter, Constance S A1 Ward-Melver, Catherine A1 Janssens, Katrien A1 Meuwissen, Marije A1 Beysen, Diane A1 Dikow, Nicola A1 Grimmel, Mona A1 Haack, Tobias B A1 Clement, Emma A1 Mctague, Amy A1 Hunt, David A1 Townshend, Sharron A1 Ward, Michelle A1 Richards, Linda J A1 Simons, Cas A1 Costain, Gregory A1 Dupuis, Lucie A1 Mendoza-Londono, Roberto A1 Dudding-Byth, Tracy A1 Boyle, Jackie A1 Saunders, Carol A1 Fleming, Emily A1 El Chehadeh, Salima A1 Spitz, Marie-Aude A1 Piton, Amelie A1 Gerard, Bénédicte A1 Abi Warde, Marie-Thérèse A1 Rea, Gillian A1 Mckenna, Caoimhe A1 Douzgou, Sofia A1 Banka, Siddharth A1 Akman, Cigdem A1 Bain, Jennifer M A1 Sands, Tristan T A1 Wilson, Golder N A1 Silvertooth, Erin J A1 Miller, Lauren A1 Lederer, Damien A1 Sachdev, Rani A1 Macintosh, Rebecca A1 Monestier, Olivier A1 Karadurmus, Deniz A1 Collins, Felicity A1 Carter, Melissa A1 Rohena, Luis A1 Willemsen, Marjolein H A1 Ockeloen, Charlotte W A1 Pfundt, Rolph A1 Kroft, Sanne D A1 Field, Michael A1 Laranjeira, Francisco E R A1 Fortuna, Ana M A1 Soares, Ana R A1 Michaud, Vincent A1 Naudion, Sophie A1 Golla, Sailaja A1 Weaver, David D A1 Bird, Lynne M A1 Friedman, Jennifer A1 Clowes, Virginia A1 Joss, Shelagh A1 Pölsler, Laura A1 Campeau, Philippe M A1 Blazo, Maria A1 Bijlsma, Emilia K A1 Rosenfeld, Jill A A1 Beetz, Christian A1 Powis, Zöe A1 Mcwalter, Kirsty A1 Brandt, Tracy A1 Torti, Erin A1 Mathot, Mikaël A1 Mohammad, Shekeeb S A1 Armstrong, Ruth A1 Kalscheuer, Vera M PB HAL CCSD; Nature Publishing Group YR 2023 K1 Male K1 Female K1 Humans K1 Neurodevelopmental Disorders K1 Mutation K1 Missense K1 Genes K1 X-Linked K1 Phenotype K1 Chloride Channels K1 [SDV.GEN]Life Sciences [q-bio]/Genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1038/s41380-022-01852-9 LK http://dx.doi.org/https://hal.science/hal-04284872 DO https://hal.science/hal-04284872 SF ELIB - SuUB Bremen
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