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Author/Creator Schaefer, Élise

1. Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report. Issue 7 (12th April 2019)

Authors:
Baer, Sarah; Schaefer, Élise; Michot, Caroline; Fischbach, Michel; Morelle, Guillaume; Bendavid, Matthieu; Castelle, Martin; Moshous, Despina; Collet, Corinne
Journal:
Pediatric blood & cancer
Issue:
Volume 66:Issue 7(2019)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation. Issue 10 (13th August 2022)

Authors:
Maillard, Pierre‐Yves; Baer, Sarah; Schaefer, Élise; Desnous, Béatrice; Villeneuve, Nathalie; Lépine, Anne; Fabre, Alexandre; Lacoste, Caroline; El Chehadeh, Salima; Piton, Amélie; Porter, Louise Frances; Perriard, Caroline; Wardé, Marie‐Thérèse Abi; Spitz, Marie‐Aude; Laugel, Vincent; Lesca, Gaë...
Journal:
Epilepsia
Issue:
Volume 63:Issue 10(2022)
Page Start:
2519
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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