Fowzan S. Alkuraya


AuthID: R-00G-D1X

Publicações a aguardar confirmação

1
TÍTULO: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
AUTORES: Vogel, Georg F.; Mozer Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian She; Weghuber, Daniel; Wortmann, Saskia; ...Mais
PUBLICAÇÃO: 2023, FONTE: GENETICS IN MEDICINE, VOLUME: 25, NÚMERO: 6
INDEXADO EM: Scopus WOS
2
TÍTULO: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition  Full Text
AUTORES: 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.; ...Mais
PUBLICAÇÃO: 2022, FONTE: MOLECULAR PSYCHIATRY, VOLUME: 28, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef: 18
3
TÍTULO: ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome
AUTORES: Awamleh, Zain; Choufani, Sanaa; Cytrynbaum, Cheryl; Alkuraya, Fowzan S.; Scherer, Stephen; Fernandes, Sofia; Rosas, Catarina; Louro, Pedro ; Dias, Patricia; Neves, Mariana Tomasio; Sousa, Sergio B.; Weksberg, Rosanna;
PUBLICAÇÃO: 2022, FONTE: HUMAN MOLECULAR GENETICS, VOLUME: 32, NÚMERO: 9
INDEXADO EM: Scopus WOS
4
TÍTULO: The syndrome of deafness-dystonia: Clinical and genetic heterogeneity. The Syndrome of Deafness and Dystonia  Full Text
AUTORES: Maja Kojovic; Isabel Parees; Tania Lampreia; Karolina Pienczk Reclawowicz; Georgia Xiromerisiou; Ignacio Rubio Agusti; Milica Kramberger; Miryam Carecchio; Anas M Alazami; Francesco Brancati; Jaroslaw Slawek; Zvezdan Pirtosek; Enza Maria Valente; Fowzan S Alkuraya; Mark J Edwards; Kailash P Bhatia;
PUBLICAÇÃO: 2013, FONTE: MOVEMENT DISORDERS, VOLUME: 28, NÚMERO: 6
INDEXADO EM: Scopus WOS CrossRef

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