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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Palmer, Elizabeth E ; 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 ; 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 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 ; 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

Molecular psychiatry, 2023-02, Vol.28 (2), p.668-697 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Freyermuth, Fernande ; Rau, Frédérique ; Kokunai, Yosuke ; Linke, Thomas ; Sellier, Chantal ; Nakamori, Masayuki ; Kino, Yoshihiro ; Arandel, Ludovic ; Jollet, Arnaud ; Thibault, Christelle ; Philipps, Muriel ; Vicaire, Serge ; Jost, Bernard ; Udd, Bjarne ; Day, John W ; Duboc, Denis ; Wahbi, Karim ; Matsumura, Tsuyoshi ; Fujimura, Harutoshi ; Mochizuki, Hideki ; Deryckere, François ; Kimura, Takashi ; Nukina, Nobuyuki ; Ishiura, Shoichi ; Lacroix, Vincent ; Campan-Fournier, Amandine ; Navratil, Vincent ; Chautard, Emilie ; Auboeuf, Didier ; Horie, Minoru ; Imoto, Keiji ; Lee, Kuang-Yung ; Swanson, Maurice S ; de Munain, Adolfo Lopez ; Inada, Shin ; Itoh, Hideki ; Nakazawa, Kazuo ; Ashihara, Takashi ; Wang, Eric ; Zimmer, Thomas ; Furling, Denis ; Takahashi, Masanori P ; Charlet-Berguerand, Nicolas

Nature communications, 2016-04, Vol.7 (1), p.11067-11067, Article 11067 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
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Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

Thomas, Shery ; Thomas, Mervyn G ; Andrews, Caroline ; Chan, Wai-Man ; Proudlock, Frank A ; McLean, Rebecca J ; Pradeep, Archana ; Engle, Elizabeth C ; Gottlob, Irene

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.344-349 [Periódico revisado por pares]

England: Nature Publishing Group

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4
A de novo case of floating chromosomal polymorphisms by translocation in Quasipaa boulengeri (Anura, Dicroglossidae)
A de novo case of floating chromosomal polymorphisms by translocation in Quasipaa boulengeri (Anura, Dicroglossidae)
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A de novo case of floating chromosomal polymorphisms by translocation in Quasipaa boulengeri (Anura, Dicroglossidae)

Qing, Liyan ; Xia, Yun ; Zheng, Yuchi ; Zeng, Xiaomao Etges, William J.

PloS one, 2012-10, Vol.7 (10), p.e46163 [Periódico revisado por pares]

United States: Public Library of Science

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5
Molecular characterization of thyroid hormone receptor beta from Schistosoma japonicum and assessment of its potential as a vaccine candidate antigen against schistosomiasis in BALB/c mice
Molecular characterization of thyroid hormone receptor beta from Schistosoma japonicum and assessment of its potential as a vaccine candidate antigen against schistosomiasis in BALB/c mice
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Molecular characterization of thyroid hormone receptor beta from Schistosoma japonicum and assessment of its potential as a vaccine candidate antigen against schistosomiasis in BALB/c mice

Qiu, Chunhui ; Liu, Shengfa ; Hong, Yang ; Fu, Zhiqiang ; Wei, Meimei ; Ai, Dezhou ; Lin, Jiaojiao

Parasites & vectors, 2012-08, Vol.5 (1), p.172-172, Article 172 [Periódico revisado por pares]

England: Springer-Verlag

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6
Infrapopulations of Gyliauchen volubilis Nagaty, 1956 (Trematoda: Gyliauchenidae) in the rabbitfish Siganus rivulatus (Teleostei: Siganidae) from the Saudi coast of the Red Sea
Infrapopulations of Gyliauchen volubilis Nagaty, 1956 (Trematoda: Gyliauchenidae) in the rabbitfish Siganus rivulatus (Teleostei: Siganidae) from the Saudi coast of the Red Sea
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Infrapopulations of Gyliauchen volubilis Nagaty, 1956 (Trematoda: Gyliauchenidae) in the rabbitfish Siganus rivulatus (Teleostei: Siganidae) from the Saudi coast of the Red Sea

Al-Jahdali, M.O.

Parasite (Paris), 2012-08, Vol.19 (3), p.227-238 [Periódico revisado por pares]

Paris: EDP Sciences

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