Emmanuelle Ranza

ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 5

Top Venues

American journal of medical genetics. Part A

Human mutation

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Emmanuelle Ranza, Morgane Le Gouez, Anne Guimier, Naziha Khen Dunlop, Sylvie Beaudoin, Valérie Malan, Caroline Michot, Geneviève Baujat, Marlène Rio, Valérie Cormier-Daire, Véronique Abadie, Sabine Sarnacki, Christophe Delacourt, Stanislas Lyonnet, Tania Attié-Bitach, Véronique Pingault, Véronique Rousseau, Jeanne Amiel
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia. American journal of medical genetics. Part A (2022)
Emmanuelle Ranza, Anne Guimier, Alain Verloes, Yline Capri, Charles Marques, Martine Auclair, Michèle Mathieu-Dramard, Gilles Morin, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet, A Micheil Innes, David A Dyment, Corinne Vigouroux, Jeanne Amiel
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants. Clinical genetics 98 (1) (2020)
Emmanuelle Ranza, Werner Z'Graggen, Mathias Lidgren, Maurice Beghetti, Michel Guipponi, Stylianos E Antonarakis, Michael Absoud, Sushma Goyal, Deb K Pal, Christian M Korff
SCN8A heterozygous variants are associated with anoxic-epileptic seizures. American journal of medical genetics. Part A 182 (5) (2020)
Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brösse, Markus Ries, Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Winnie P Ong, Hui Bein Chew, Kavitha Rethanavelu, Emmanuelle Ranza, Xavier Blanc, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Yoshiteru Azuma, Eriko Koshimizu, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hidehisa Takahashi, Etsuko Miyagi, Yoshinori Tsurusaki, Hiroshi Doi, Masataka Taguri, Stylianos E Antonarakis, Mitsuko Nakashima, Hirotomo Saitsu, Satoko Miyatake, Naomichi Matsumoto
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Human mutation 42 (1) (2020)
Emmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, Michel Guipponi, Johannes A Lobrinus, Armand Bottani, Ilse Kern, Mary Kurian, Marie-Pascale Pittet, Stylianos E Antonarakis, Joel Fluss, Christian M Korff
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy. American journal of medical genetics. Part A 173 (9) (2017)

Emmanuelle Ranza.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Emmanuelle Ranza