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Author/Creator Brischoux-Boucher, Elise

1. Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients. Issue 7 (23rd October 2021)

Authors:
Pilz, Robert; Opálka, Lukáš; Majcher, Adam; Grimm, Elisabeth; Van Maldergem, Lionel; Mihalceanu, Silvia; Schäkel, Knut; Enk, Alexander; Aubin, François; Bursztejn, Anne-Claire; Brischoux-Boucher, Elise; Fischer, Judith; Sandhoff, Roger
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 7(2022)
Page Start:
1105
Record Type:
Journal Article
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2. Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts. Issue 8 (August 2022)

Authors:
Marangoni, Martina; Smits, Guillaume; Ceysens, Gilles; Costa, Elena; Coulon, Robert; Daelemans, Caroline; De Coninck, Caroline; Derisbourg, Sara; Gajewska, Kalina; Garofalo, Giulia; Gounongbe, Caroline; Guizani, Meriem; Holoye, Anne; Houba, Catherine; Makhoul, Jean; Norgaard, Christian; Regnard, ...
Journal:
Obstetrical & gynecological survey
Issue:
Volume 77:Issue 8(2022)
Page Start:
465
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Increasing knowledge in IGF1R defects: lessons from 35 new patients. Issue 3 (5th October 2019)

Authors:
Giabicani, Eloïse; Willems, Marjolaine; Steunou, Virginie; Chantot-Bastaraud, Sandra; Thibaud, Nathalie; Abi Habib, Walid; Azzi, Salah; Lam, Bich; Bérard, Laurence; Bony-Trifunovic, Hélène; Brachet, Cécile; Brischoux-Boucher, Elise; Caldagues, Emmanuelle; Coutant, Regis; Cuvelier, Marie-Laure; Ge...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 3(2020)
Page Start:
160
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗