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Author/Creator Gofin, Yoel

1. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Issue 4 (30th January 2022)

Authors:
Gofin, Yoel; Wang, Tianyun; Gillentine, Madelyn A.; Scott, Tiana M.; Berry, Aliska M.; Azamian, Mahshid S.; Genetti, Casie; Agrawal, Pankaj B.; Picker, Jonathan; Wojcik, Monica H.; Delgado, Mauricio R.; Lynch, Sally A.; Scherer, Stephen W.; Howe, Jennifer L.; Bacino, Carlos A.; DiTroia, Stephanie...
Journal:
Human mutation
Issue:
Volume 43:Issue 4(2022)
Page Start:
461
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Issue 3 (14th January 2021)

Authors:
Gofin, Yoel; Mackay, Laura Palmer; Machol, Keren; Keswani, Sundeep; Potocki, Lorraine; Di Gregorio, Eleonora; Naretto, Valeria Giorgia; Brusco, Alfredo; Hernandez‐Garcia, Andres; Scott, Daryl A.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 3(2021)
Page Start:
836
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

8. Underlying genetic etiologies of congenital diaphragmatic hernia. (22nd January 2022)

Authors:
Scott, Daryl A.; Gofin, Yoel; Berry, Aliska M.; Adams, April D.
Other Names:
Maria Russo Francesca guestEditor.; Benachi Alexandra guestEditor.; Gratacos Eduard guestEditor.; Zani Augusto guestEditor.; Keijzer R guestEditor.; Partridge Emily guestEditor.; Nicolas Sananes guestEditor.; De Coppi Paolo guestEditor.; Aertsen Michael guestEditor.; Nicolaides Kypros guestEditor...
Journal:
Prenatal diagnosis
Issue:
Volume 42:Number 3(2022)
Page Start:
373
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗