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Emmanuelle Ranza

5PUBLICATIONS

22CO-AUTHORS

NeonatologyEpigenetics (incl. genome methylation and epigenomics)Gene and molecular therapyNeurology and neuromuscular diseases

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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

Frequent Collaborators

1 joint publications

Alain Verloes

1 joint publications

David A Dyment

1 joint publications

Toshiyuki Itai

1 joint publications

Kohei Hamanaka

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