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Author/Creator Velasco, Danita

1. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Issue 4 (13th July 2021)

Authors:
Palmer, Elizabeth E.; Whitton, Chloe; Hashem, Mais O.; Clark, Robin D.; Ramanathan, Subhadra; Starr, Lois J.; Velasco, Danita; De Dios, John Karl; Singh, Emily; Cormier‐Daire, Valerie; Chopra, Maya; Rodan, Lance H.; Nellaker, Christoffer; Lakhani, Shenela; Mallack, Eric J.; Panzer, Karin; Sidhu, ...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 4(2021)
Page Start:
468
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. Issue 11 (1st March 2022)

Authors:
Angelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N; Ritter, Alyssa L; Leonard, Jacqueline M M; Savatt, Juliann M; Douglass, Kristen; Myers, Scott M; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C E; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andr...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 11(2022)
Page Start:
1058
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗