Fowzan S. Alkuraya
AuthID: R-00G-D1X
1
TITLE: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
AUTHORS: 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.; ...More
PUBLISHED: 2023, SOURCE: GENETICS IN MEDICINE, VOLUME: 25, ISSUE: 6
AUTHORS: 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.; ...More
PUBLISHED: 2023, SOURCE: GENETICS IN MEDICINE, VOLUME: 25, ISSUE: 6
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition Full Text
AUTHORS: 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; ...More
PUBLISHED: 2022, SOURCE: MOLECULAR PSYCHIATRY, VOLUME: 28, ISSUE: 2
AUTHORS: 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; ...More
PUBLISHED: 2022, SOURCE: MOLECULAR PSYCHIATRY, VOLUME: 28, ISSUE: 2
3
TITLE: ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome
AUTHORS: 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;
PUBLISHED: 2022, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 32, ISSUE: 9
AUTHORS: 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;
PUBLISHED: 2022, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 32, ISSUE: 9
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: The syndrome of deafness-dystonia: Clinical and genetic heterogeneity. The Syndrome of Deafness and Dystonia Full Text
AUTHORS: 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;
PUBLISHED: 2013, SOURCE: MOVEMENT DISORDERS, VOLUME: 28, ISSUE: 6
AUTHORS: 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;
PUBLISHED: 2013, SOURCE: MOVEMENT DISORDERS, VOLUME: 28, ISSUE: 6
