Judith Melki

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 7

Top Venues

Journal of medical genetics

Clinical genetics

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

Publications

Yline Capri, Theresa Kwon, Olivia Boyer, Lucas Bourmance, Noe Testa, Véronique Baudouin, Ronan Bonnefoy, Anne Couderc, Chakib Meziane, Elisabeth Tournier-Lasserve, Laurence Heidet, Judith Melki
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension. Journal of medical genetics (2023)
Yline Capri, Theresa Kwon, Olivia Boyer, Lucas Bourmance, Noe Testa, Véronique Baudouin, Ronan Bonnefoy, Anne Couderc, Chakib Meziane, Elisabeth Tournier-Lasserve, Laurence Heidet, Judith Melki
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension. Journal of medical genetics (2023)
Yline Capri, Lucas Bourmance, Céline Dupont, Marie-Hélène Saint-Frison, Fabien Guimiot, Sarah Grotto, Yvon Chitrit, Annie Laquerrière, Judith Melki
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy. Clinical genetics (2023)
Yline Capri, Theresa Kwon, Olivia Boyer, Lucas Bourmance, Noe Testa, Véronique Baudouin, Ronan Bonnefoy, Anne Couderc, Chakib Meziane, Elisabeth Tournier-Lasserve, Laurence Heidet, Judith Melki
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension. Journal of medical genetics (2023)
Yline Capri, Theresa Kwon, Olivia Boyer, Lucas Bourmance, Noe Testa, Véronique Baudouin, Ronan Bonnefoy, Anne Couderc, Chakib Meziane, Elisabeth Tournier-Lasserve, Laurence Heidet, Judith Melki
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension. Journal of medical genetics (2023)
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, Valerie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloes, Bettina Bessieres, Laurence Loeuillet, Tania Attie-Bitach, Jelena Martinovic, Sophie Blesson, Florence Petit, Claire Beneteau, Sandra Whalen, Florent Marguet, Jerome Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Olivier-Faivre, Pierre-Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne-Lise Delezoide, Alice Goldenberg, Marie-Line Jacquemont, Laetitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Munnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, Pierre Landrieu, Pascaline Letard, Fanny Pelluard, Laurence Perrin, Marie-Hélène Saint-Frison, Haluk Topaloglu, Laetitia Trestard, Catherine Vincent-Delorme, Helge Amthor, Christine Barnerias, Alexandra Benachi, Eric Bieth, Elise Brischoux-Boucher, Valerie Cormier-Daire, Andrée Delahaye-Duriez, Isabelle Desguerre, Bruno Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin-Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quélin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Helene Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet-Bianco, Michèle Granier, Romulus Grigorescu, Julien Saada, Marie Gonzales, Anne Guiochon-Mantel, Jean-Louis Bessereau, Marcel Tawk, Ivo Gut, Cyril Gitiaux, Judith Melki
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Journal of medical genetics (2021)
Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes. Journal of medical genetics 58 (11) (2020)

Judith Melki.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Judith Melki