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Author/Creator Bretones, Patricia

2. IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency. Issue 6 (3rd November 2022)

Authors:
Fourneaux, Rachel; Reynaud, Rachel; Mougel, Gregory; Castets, Sarah; Bretones, Patricia; Dauriat, Benjamin; Edouard, Thomas; Raverot, Gerald; Barlier, Anne; Brue, Thierry; Castinetti, Frederic; Saveanu, Alexandru
Journal:
European journal of endocrinology
Issue:
Volume 187:Issue 6(2022)
Page Start:
787
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. Issue 1 (December 2016)

Authors:
Calmels, Nadège; Greff, Géraldine; Obringer, Cathy; Kempf, Nadine; Gasnier, Claire; Tarabeux, Julien; Miguet, Marguerite; Baujat, Geneviève; Bessis, Didier; Bretones, Patricia; Cavau, Anne; Digeon, Béatrice; Doco-Fenzy, Martine; Doray, Bérénice; Feillet, François; Gardeazabal, Jesus; Gener, Blanc...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗