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Author/Creator Hurst, Anna

2. Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins. Issue 5 (29th July 2021)

Authors:
Salian, Smrithi; Scala, Marcello; Nguyen, Thi Tuyet Mai; Severino, Mariasavina; Accogli, Andrea; Amadori, Elisabetta; Torella, Annalaura; Pinelli, Michele; Hudson, Beth; Boothe, Megan; Hurst, Anna; Ben‐Omran, Tawfeg; Larsen, Martin J.; Fagerberg, Christina R.; Sperling, Lene; Miceikaite, Ieva; He...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 5(2021)
Page Start:
607
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients. Issue 1 (21st September 2022)

Authors:
Adutwum, Michelle; Hurst, Anna; Mirzaa, Ghayda; Kushner, Jessica D.; Rogers, Caleb; Khalek, Nahla; Cristancho, Ana G.; Burrill, Natalie; Seifert, Michael E.; Scarano, Maria I.; Schnur, Rhonda E.; Slavotinek, Anne
Journal:
Clinical genetics
Issue:
Volume 103:Issue 1(2023)
Page Start:
97
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗