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Author/Creator Matalon, Dena R.

1. Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant. Issue 5 (12th January 2022)

Authors:
Morales, Jose Andres; Valenzuela, Irene; Cuscó, Ivon; Cogné, Benjamin; Isidor, Bertrand; Matalon, Dena R.; Gomez‐Ospina, Natalia
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 5(2022)
Page Start:
1396
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. Issue 4 (6th January 2023)

Authors:
Matalon, Dena R.; Bhoj, Elizabeth J.; Li, Dong; McDougall, Carey; Schindewolf, Erica; Khalek, Nahla; Wilkens, Alisha; McManus, Morgan; Deardorff, Matthew A.; Zackai, Elaine H.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 4(2023)
Page Start:
977
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗