Emmanuelle Ranza
5PUBLICATIONS
22CO-AUTHORS
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Publications (5)
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|Oct 22, 2022
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.Emmanuelle Ranza, Morgane Le Gouez, Anne Guimier
|Nov 01, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki
|Apr 02, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.Emmanuelle Ranza, Anne Guimier, Alain Verloes
|Feb 11, 2020
SCN8A heterozygous variants are associated with anoxic-epileptic seizures.Emmanuelle Ranza, Werner Z'Graggen, Mathias Lidgren
|Jun 21, 2017
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.Emmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis
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Frequent Collaborators
1 joint publications
Alain Verloes
1 joint publications
David A Dyment
1 joint publications
Toshiyuki Itai
1 joint publications
Kohei Hamanaka
1 joint publications
Matias Wagner
1 joint publications
Markus Ries
1 joint publications
Winnie P Ong
1 joint publications
Hui B Chew
1 joint publications
Kavitha Rethanavelu
1 joint publications
Xavier Blanc
