Hulya Kayserili
AuthID: R-00G-EXP
1
TITLE: Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
AUTHORS: Traspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; ...More
PUBLISHED: 2022, SOURCE: NATURE GENETICS, VOLUME: 54, ISSUE: 8
AUTHORS: Traspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; ...More
PUBLISHED: 2022, SOURCE: NATURE GENETICS, VOLUME: 54, ISSUE: 8
INDEXED IN: Scopus WOS
2
TITLE: DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
AUTHORS: Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hulya Kayserili; Elicia Estrella; Anneke T Vulto van Silfhout; Marloes Steehouwer; Donna M Muzny; Reid R Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; ...More
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, ISSUE: 4
AUTHORS: Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hulya Kayserili; Elicia Estrella; Anneke T Vulto van Silfhout; Marloes Steehouwer; Donna M Muzny; Reid R Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; ...More
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, ISSUE: 4
3
TITLE: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Full Text
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
INDEXED IN: Scopus CrossRef