Search

Author/Creator Palculict, Timothy Blake

1. De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. Issue 3 (19th May 2020)

Authors:
Buratti, Julien; Ji, Lei; Keren, Boris; Lee, Youngha; Booke, Stephanie; Erdin, Serkan; Kim, Soo Yeon; Palculict, Timothy Blake; Meiner, Vardiella; Chae, Jong Hee; Woods, Christopher Geoffrey; Tam, Allison; Héron, Delphine; Cong, Feng; Harel, Tamar
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 3(2021)
Page Start:
205
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. Issue 6 (5th August 2020)

Authors:
Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J.; Barr, Eileen; Bernstein, Jonathan A.; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K.; Ciliberto, Michael A.; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1333
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature. Issue 5 (16th February 2023)

Authors:
Albokhari, Daniah; Pritchard, Amanda Barone; Beil, Adelyn; Muss, Candace; Bupp, Caleb; Grange, Dorothy K.; Delplancq, Geoffroy; Heeley, Jennifer; Zuteck, Melissa; Morrow, Michelle M.; Kuentz, Paul; Palculict, Timothy Blake; Hoover‐Fong, Julie E.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 5(2023)
Page Start:
1261
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗