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Author/Creator Burrow, Thomas A.

1. Clinical delineation of the PACS1‐related syndrome—Report on 19 patients. Issue 3 (3rd February 2016)

Authors:
Schuurs‐Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville‐Heygate, Stephanie; Hanson‐Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David; Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van der...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 3(2016)
Page Start:
670
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Issue 6 (1st May 2015)

Authors:
Esmaeeli Nieh, Sahar; Madou, Maura R. Z.; Sirajuddin, Minhajuddin; Fregeau, Brieana; McKnight, Dianalee; Lexa, Katrina; Strober, Jonathan; Spaeth, Christine; Hallinan, Barbara E.; Smaoui, Nizar; Pappas, John G.; Burrow, Thomas A.; McDonald, Marie T.; Latibashvili, Mariam; Leshinsky‐Silver, Esther...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Issue 6(2015:Jun.)
Page Start:
623
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect. Issue 5 (8th November 2018)

Authors:
Metz, Kyle A.; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M.; Wagner, Bart E.; Rosenfeld, Jill A.; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E.; Wang, Tim Sen; Haberlandt, Edda D.; Anderson, Glenn W.; Leshinsky‐Silver, Esther; Bi, Weimin; Markello, Thomas C.; Pratt, Marsha; M...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 5(2018)
Page Start:
766
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗