Showing 1 - 3 results of 3 for search 'Victor Faundes', query time: 0.01s
Refine Results
-
1
Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome by Macarena Gajardo, José Luis Guerrero, Bárbara Poblete, Esperanza Bayyad, Ignacio Castro, Jorge Maturana, Jaime Tobar, Víctor Faúndes, Paola Krall, Paola Krall, Paola Krall
Published 2025-04-01Get full text
Article -
2
WCN24-850 A complex pediatric case with homozygous IFT140 variants involving renal cysts: a comprehensive analysis to guide diagnosis and patient care by Paola Krall, Esperanza Bayyad, Bárbara Poblete, Victor Faúndes, María Isabel González, Karen Orostica, Jorge Maturana, Ignacio Castro, Jerka Krstulovic, Jaime Tobar, Gastón Mendez, Jose Luis Guerrero
Published 2024-04-01Get full text
Article -
3
P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants by David Curtis, Daryl Scott, Seema Lalani, Mahshid Azamian, Kierstin Keller, Alanna Strong, Joseph Shen, Colette DeFilippo, Himanshu Goel, Betsy Schmalz, Bimal Chaudhari, Shelagh Joss, Muge Gucsavas-Calikoglu, Yael Shiloh-Malawsky, Yezmin Perilla-Young, Olivia Thompson, Neena Champaigne, Luigi Chiratti, Marco Ferilli, Marco Tartaglia, Manuela Priolo, Radio Clementina, Christelle Achkar, Koen Gassen, Marie-José van den Boogard, Tony Roscioli, Kim McBride, Julie Lauzon, Hannes Syryn, Martine Cools, Elfride De Baere, Victor Faundes, Gabriela Repetto, Sarah Josephi-Taylor, Adam Bournazos, Sandra Cooper, Nichole Owen, Xiaonan Zhao
Published 2025-01-01Get full text
Article