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Author/Creator Kumps, Camille

2. Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene. Issue 6 (21st February 2021)

Authors:
Atallah, Isis; Quinodoz, Mathieu; Campos‐Xavier, Belinda; Peter, Virginie G.; Fouriki, Athina; Bonvin, Christophe; Bottani, Armand; Kumps, Camille; Angelini, Federica; Bellutti Enders, Felicitas; Christen‐Zaech, Stéphanie; Rizzi, Mattia; Renella, Raffaele; Beck‐Popovic, Maja; Poloni, Claudia; Fro...
Journal:
Clinical genetics
Issue:
Volume 99:Issue 6(2021)
Page Start:
780
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Issue 7 (28th July 2021)

Authors:
Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie;...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 7(2022)
Page Start:
697
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗