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Author/Creator Brimble, Elise

2. Expanding the molecular and clinical phenotypes of FUT8‐CDG. Issue 4 (23rd February 2020)

Authors:
Ng, Bobby G.; Dastsooz, Hassan; Silawi, Mohammad; Habibzadeh, Parham; Jahan, Shima B.; Fard, Mohammad A. F.; Halliday, Benjamin J.; Raymond, Kimiyo; Ruzhnikov, Maura R. Z.; Tabatabaei, Zahra; Taghipour‐Sheshdeh, Afsaneh; Brimble, Elise; Robertson, Stephen P.; Faghihi, Mohammad A.; Freeze, Hudson H.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 4(2020)
Page Start:
871
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function. Issue 4 (14th January 2020)

Authors:
Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; ...
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
837
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). Issue 4 (1st March 2021)

Authors:
Franken, Gijs A. C.; Müller, Dominik; Mignot, Cyril; Keren, Boris; Lévy, Jonathan; Tabet, Anne‐Claude; Germanaud, David; Tejada, María‐Isabel; Kroes, Hester Y.; Nievelstein, Rutger A. J.; Brimble, Elise; Ruzhnikov, Maria; Claverie‐Martin, Felix; Szczepańska, Maria; Ćuk, Martin; Latta, Femke; Konr...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
473
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗