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Author/Creator Hobson, Grace M.

1. Altered PLP1 splicing causes hypomyelination of early myelinating structures. Issue 6 (1st May 2015)

Authors:
Kevelam, Sietske H.; Taube, Jennifer R.; van Spaendonk, Rosalina M. L.; Bertini, Enrico; Sperle, Karen; Tarnopolsky, Mark; Tonduti, Davide; Valente, Enza Maria; Travaglini, Lorena; Sistermans, Erik A.; Bernard, Geneviève; Catsman‐Berrevoets, Coriene E.; van Karnebeek, Clara D. M.; Østergaard, Joh...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Issue 6(2015:Jun.)
Page Start:
648
Record Type:
Journal Article
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2. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing. Issue 8 (23rd June 2020)

Authors:
Schmidt, Johanna L.; Pizzino, Amy; Nicholl, Jessica; Foley, Allison; Wang, Yue; Rosenfeld, Jill A.; Mighion, Lindsey; Bean, Lora; da Silva, Cristina; Cho, Megan T.; Truty, Rebecca; Garcia, John; Speare, Virginia; Blanco, Kirsten; Powis, Zoe; Hobson, Grace M.; Kirwin, Susan; Krock, Bryan; Lee, Han...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 8(2020)
Page Start:
1906
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Genome sequencing in persistently unsolved white matter disorders. Issue 1 (7th January 2020)

Authors:
Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole I.; Abbin...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 1(2020)
Page Start:
144
Record Type:
Journal Article
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4. Inside Back Cover, Volume 41, Issue 1. Issue 1 (24th December 2019)

Authors:
Hijazi, Hadia; Coelho, Fernanda S.; Gonzaga‐Jauregui, Claudia; Bernardini, Laura; Mar, Soe S.; Manning, Melanie A.; Hanson‐Kahn, Andrea; Naidu, SakkuBai; Srivastava, Siddharth; Lee, Jennifer A.; Jones, Julie R.; Friez, Michael J.; Alberico, Thomas; Torres, Barbara; Fang, Ping; Cheung, Sau Wai; So...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
ii
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Issue 1 (14th November 2019)

Authors:
Hijazi, Hadia; Coelho, Fernanda S.; Gonzaga‐Jauregui, Claudia; Bernardini, Laura; Mar, Soe S.; Manning, Melanie A.; Hanson‐Kahn, Andrea; Naidu, SakkuBai; Srivastava, Siddharth; Lee, Jennifer A.; Jones, Julie R.; Friez, Michael J.; Alberico, Thomas; Torres, Barbara; Fang, Ping; Cheung, Sau Wai; So...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
150
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗