Search

Author/Creator Hopkin, Robert

1. Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d‐transposition of the great arteries. Issue 10 (16th September 2021)

Authors:
Shillington, Amelle; Zea Vera, Alonso; Perry, Tanya; Hopkin, Robert; Thomas, Cameron; Cooper, David; Suhrie, Kristen
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 10(2021)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Issue 19 (15th September 2020)

Authors:
Abell, Katherine; Tolusso, Leandra; Smith, Nicki; Hopkin, Robert; Vawter‐Lee, Marissa; Habli, Mounira; Riddle, Stefanie; Calvo‐Garcia, Maria A.; Guan, Qiaoning; Bierbrauer, Karin; Hwa, Vivian; Saal, Howard M.
Other Names:
Watanabe Michiko guestEditor.; Zhou Chengji J. guestEditor.
Journal:
Birth defects research
Issue:
Volume 112:Issue 19(2020)
Page Start:
1733
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Issue 12 (December 2021)

Authors:
Schoser, Benedikt; Roberts, Mark; Byrne, Barry J; Sitaraman, Sheela; Jiang, Hai; Laforêt, Pascal; Toscano, Antonio; Castelli, Jeff; Díaz-Manera, Jordi; Goldman, Mitchell; van der Ploeg, Ans T; Bratkovic, Drago; Kuchipudi, Srilakshmi; Mozaffar, Tahseen; Kishnani, Priya S; Sebok, Agnes; Pestronk, A...
Journal:
Lancet neurology
Issue:
Volume 20:Issue 12(2021)
Page Start:
1027
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗