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Author/Creator Demirdas, Serwet

1. Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy. (March 2019)

Authors:
Demirdas, Serwet; van Slegtenhorst, Marjon A.; Verdijk, Robert M.; Lee, Max; van den Hout, Hannerieke M.P.; Wessels, Marja W.; Frohn-Mulder, Ingrid M.E.; Gardeitchik, Thatjana; van der Ploeg, Ans T.; Schaaf, Gerben J.
Journal:
Circulation
Issue:
Volume 12:Number 3(2019)
Page Start:
Record Type:
Journal Article
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2. Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Issue 11 (26th August 2021)

Authors:
Schirwani, Schaida; Albaba, Shadi; Carere, Deanna Alexis; Guillen Sacoto, Maria J.; Milan Zamora, Francisca; Si, Yue; Rabin, Rachel; Pappas, John; Renaud, Deborah L.; Hauser, Natalie; Reid, Evan; Blanchet, Patricia; Foulds, Nichola; Dixit, Abhijit; Fisher, Richard; Armstrong, Ruth; Isidor, Bertra...
Other Names:
Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 11(2021)
Page Start:
3446
Record Type:
Journal Article
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4. The 2017 international classification of the Ehlers–Danlos syndromes. Issue 1 (March 2017)

Authors:
Malfait, Fransiska; Francomano, Clair; Byers, Peter; Belmont, John; Berglund, Britta; Black, James; Bloom, Lara; Bowen, Jessica M.; Brady, Angela F.; Burrows, Nigel P.; Castori, Marco; Cohen, Helen; Colombi, Marina; Demirdas, Serwet; De Backer, Julie; De Paepe, Anne; Fournel‐Gigleux, Sylvie; Fran...
Other Names:
Tinkle Brad T. guestEditor.; Malfait Fransiska guestEditor.; Francomano Clair A. guestEditor.; Byers Peter H. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 175:Issue 1(2017)
Page Start:
8
Record Type:
Journal Article
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5. The Ehlers–Danlos syndromes, rare types. Issue 1 (March 2017)

Authors:
Brady, Angela F.; Demirdas, Serwet; Fournel‐Gigleux, Sylvie; Ghali, Neeti; Giunta, Cecilia; Kapferer‐Seebacher, Ines; Kosho, Tomoki; Mendoza‐Londono, Roberto; Pope, Michael F.; Rohrbach, Marianne; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Zschocke, Johannes; Mal...
Other Names:
Tinkle Brad T. guestEditor.; Malfait Fransiska guestEditor.; Francomano Clair A. guestEditor.; Byers Peter H. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 175:Issue 1(2017)
Page Start:
70
Record Type:
Journal Article
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6. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Issue 10 (29th July 2022)

Authors:
van Woerden, Geeske M.; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella A.; Baban, Anwar; Bassetti, Jennifer A.; van Bever, Yolande; Bird, Lynne M.; van Bon, Bregje W.; Brooks, Alice S.; Guan, Qiaoning; Klee, Eric W.; Marcelis, Carlo; Rosado, Joel M.; Schimmenti, Lisa A.; Shikany, Amy R....
Journal:
Human mutation
Issue:
Volume 43:Issue 10(2022)
Page Start:
1377
Record Type:
Journal Article
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