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Author/Creator Lee, John Y.W.

1. Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. Issue 2 (November 2016)

Authors:
Hsu, Chao-Kai; Liu, Lu; Can, Pelin K.; Kocatürk, Emek; McMillan, James R.; Güngör, Şule; Hürdoğan, Özge; Sargan, Aytul; Degirmentepe, Ece N.; Lee, John Y.W.; Simpson, Michael A.; McGrath, John A.
Journal:
Journal of dermatological science
Issue:
Volume 84:Issue 2(2016:Nov.)
Page Start:
210
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility. Issue 2 (February 2018)

Authors:
Lee, John Y.W.; Farag, Assem; Tawdy, Amira; Liu, Lu; Michael, Magdalene; Rashidghamat, Ellie; Aristodemou, Sophia; Hsu, Chao-Kai; Simpson, Michael A.; Parsons, Maddy; McGrath, John A.
Journal:
Journal of dermatological science
Issue:
Volume 89:Issue 2(2018)
Page Start:
198
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. Issue 11 (8th September 2017)

Authors:
Straussberg, Rachel; Onoufriadis, Alexandros; Konen, Osnat; Zouabi, Yasmin; Cohen, Lior; Lee, John Y.W.; Hsu, Chao‐Kai; Simpson, Michael A.; McGrath, John A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 11(2017)
Page Start:
3109
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. Issue 11 (8th September 2017)

Authors:
Straussberg, Rachel; Onoufriadis, Alexandros; Konen, Osnat; Zouabi, Yasmin; Cohen, Lior; Lee, John Y.W.; Hsu, Chao‐Kai; Simpson, Michael A.; McGrath, John A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 11(2017)
Page Start:
3109
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗