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Author/Creator Bedoukian, Emma C.

2. ENHANCED S-CONE SYNDROME: VISUAL FUNCTION, CROSS-SECTIONAL IMAGING, AND CELLULAR STRUCTURE WITH ADAPTIVE OPTICS OPHTHALMOSCOPY. Issue Volume 15:Issues 6(2021) (November 2021)

Authors:
Ammar, Michael J.; Scavelli, Kurt T.; Uyhazi, Katherine E.; Bedoukian, Emma C.; Serrano, Leona W.; Edelstein, Ilaina D.; Vergilio, Grace; Cooper, Robert F.; Morgan, Jessica I. W.; Kumar, Priyanka; Aleman, Tomas S.
Journal:
Retinal cases & brief reports
Issue:
Volume 15:Issues 6(2021)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. ENHANCED S-CONE SYNDROME: VISUAL FUNCTION, CROSS-SECTIONAL IMAGING, AND CELLULAR STRUCTURE WITH ADAPTIVE OPTICS OPHTHALMOSCOPY. Issue Volume 15:Issues 6(2021) (November 2021)

Authors:
Ammar, Michael J.; Scavelli, Kurt T.; Uyhazi, Katherine E.; Bedoukian, Emma C.; Serrano, Leona W.; Edelstein, Ilaina D.; Vergilio, Grace; Cooper, Robert F.; Morgan, Jessica I. W.; Kumar, Priyanka; Aleman, Tomas S.
Journal:
Retinal cases & brief reports
Issue:
Volume 15:Issues 6(2021)
Page Start:
694
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients. Issue 12 (11th October 2020)

Authors:
Cohen, Jennifer L.; Schrier Vergano, Samantha A.; Mazzola, Sarah; Strong, Alanna; Keena, Beth; McDougall, Carey; Ritter, Alyssa; Li, Dong; Bedoukian, Emma C.; Burke, Leah W.; Hoffman, Amber; Zurcher, Victoria; Krantz, Ian D.; Izumi, Kosuke; Bhoj, Elizabeth; Zackai, Elaine H.; Deardorff, Matthew A.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 12(2020)
Page Start:
2926
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series. (2nd November 2022)

Authors:
Aleman, Tomas S.; O'Neil, Erin C.; Uyhazi, Katherine E.; Parchinski, Kelsey M.; Santos, Arlene J.; Weber, Mariejel L.; Colclough, Sherice P.; Billek, Andrew S.; Zhu, Xiaosong; Leroy, Bart P.; Bedoukian, Emma C.
Journal:
Ophthalmic genetics
Issue:
Volume 43:Number 6(2022)
Page Start:
824
Record Type:
Journal Article
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9. Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic. Issue 10 (2nd August 2016)

Authors:
Mehta, Devanshi; Noon, Sarah E.; Schwartz, Emily; Wilkens, Alisha; Bedoukian, Emma C.; Scarano, Irene; Crenshaw, E. Bryan; Krantz, Ian D.
Other Names:
Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 10(2016)
Page Start:
2523
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

10. Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant. Issue 2 (14th January 2021)

Authors:
Bedoukian, Emma C.; Rentas, Stefan; Skraban, Cara; Shao, Qing; Treat, James; Laird, Dale W.; Sullivan, Kathleen E.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 2(2021)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗