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Author/Creator Derive, Nicolas

1. Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Issue 1 (1st October 2021)

Authors:
Zech, Michael; Kumar, Kishore R.; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G.; Drew, Alexander P.; Adam, Robert J.; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C.; Bardakjian, Tanya; Gonzalez‐Alegre, Pedro; Keller Sar...
Journal:
Movement disorders
Issue:
Volume 37:Issue 1(2022)
Page Start:
137
Record Type:
Journal Article
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2. BRCA Share: A Collection of Clinical BRCA Gene Variants. Issue 12 (28th September 2016)

Authors:
Béroud, Christophe; Letovsky, Stanley I.; Braastad, Corey D.; Caputo, Sandrine M.; Beaudoux, Olivia; Bignon, Yves Jean; Bressac‐De Paillerets, Brigitte; Bronner, Myriam; Buell, Crystal M.; Collod‐Béroud, Gwenaëlle; Coulet, Florence; Derive, Nicolas; Divincenzo, Christina; Elzinga, Christopher D.;...
Journal:
Human mutation
Issue:
Volume 37:Issue 12(2016)
Page Start:
1318
Record Type:
Journal Article
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3. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Issue 1 (13th September 2021)

Authors:
von der Lippe, Charlotte; Tveten, Kristian; Prescott, Trine E.; Holla, Øystein L.; Busk, Øyvind L.; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Júlia; Fry, Andrew E.; Lim, Derek; Jolles, Stephen; Evans, Jennifer; Osio, Deborah; Macmillan, Carol; Bruno, Irene; Faletra, Flavio; Climent, Sa...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
272
Record Type:
Journal Article
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4. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019)

Authors:
Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1557
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗