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Author/Creator Albaba, Shadi

2. Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. Issue 7 (22nd April 2020)

Authors:
Durkin, Anna; Albaba, Shadi; Fry, Andrew E.; Morton, Jenny E.; Douglas, Andrew; Beleza, Ana; Williams, Denise; Volker‐Touw, Catharina M.L.; Lynch, Sally A.; Canham, Natalie; Clowes, Virginia; Straub, Volker; Lachlan, Katherine; Gibbon, Frances; El Gamal, Mayy; Varghese, Vinod; Parker, Michael J.;...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 7(2020)
Page Start:
1637
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗