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Author/Creator Ben Aim, Laurène

1. A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy. (15th December 2015)

Authors:
De Cid, Rafael; Ben Yaou, Rabah; Roudaut, Carinne; Charton, Karine; Baulande, Sylvain; Leturcq, France; Romero, Norma Beatriz; Malfatti, Edoardo; Beuvin, Maud; Vihola, Anna; Criqui, Audrey; Nelson, Isabelle; Nectoux, Juliette; Ben Aim, Laurène; Caloustian, Christophe; Olaso, Robert; Udd, Bjarne; ...
Journal:
Neurology
Issue:
Volume 85:Number 24(2015)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma. Issue 8 (15th March 2019)

Authors:
Ben Aim, Laurène; Pigny, Pascal; Castro-Vega, Luis Jaime; Buffet, Alexandre; Amar, Laurence; Bertherat, Jérôme; Drui, Delphine; Guilhem, Isabelle; Baudin, Eric; Lussey-Lepoutre, Charlotte; Corsini, Carole; Chabrier, Gérard; Briet, Claire; Faivre, Laurence; Cardot-Bauters, Catherine; Favier, Judit...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 8(2019)
Page Start:
513
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

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