Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome

por Ajmi, Houda, Ruiz Perez, Victor L., Hassayoun, Saida, Mabrouk, Sameh, Mahdoui, Sana, Boughzela, Essia, Zouari, Noura, Abroug, Saoussan
Publicado 2015

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

por Valencia, Maria, Tabet, Lara, Yazbeck, Nadine, Araj, Alia, Ruiz-Perez, Victor L., Charaffedine, Khalil, Fares, Farah, Badra, Rebecca, Farra, Chantal
Publicado 2015

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

por Blair, Helen J, Tompson, Stuart, Liu, Yu-Ning, Campbell, Jennifer, MacArthur, Katie, Ponting, Chris P, Ruiz-Perez, Victor L, Goodship, Judith A
Publicado 2011

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

por Pan-Hammarström, Qiang, Lähdesmäki, Aleksi, Zhao, Yaofeng, Du, Likun, Zhao, Zhihui, Wen, Sicheng, Ruiz-Perez, Victor L., Dunn-Walters, Deborah K., Goodship, Judith A., Hammarström, Lennart
Publicado 2006

Título no disponible

por Pan-Hammarström, Qiang, Lähdesmäki, Aleksi, Zhao, Yaofeng, Du, Likun, Zhao, Zhihui, Wen, Sicheng, Ruiz-Perez, Victor L., Dunn-Walters, Deborah K., Goodship, Judith A., Hammarström, Lennart
Publicado 2006

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

por Maroofian, Reza, Efthymiou, Stephanie, Suri, Mohnish, Rahman, Fatima, Zaki, Maha S, Maqbool, Shazia, Anwa, Najwa, Ruiz-Pérez, Victor L, Yanovsky-Dagan, Shira, Elpeleg, Orly, Sudhakar, Sniya, Mankad, Kshitij, Harel, Tamar, Houlden, Henry
Publicado 2023

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

por Kague, Erika, Turci, Francesco, Newman, Elis, Yang, Yushi, Brown, Kate Robson, Aglan, Mona S., Otaify, Ghada A., Temtamy, Samia A., Ruiz-Perez, Victor L., Cross, Stephen, Royall, C. Patrick, Witten, P. Eckhard, Hammond, Chrissy L.
Publicado 2021

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

por Barbeito, Pablo, Martin-Morales, Raquel, Palencia-Campos, Adrian, Cerrolaza, Juan, Rivas-Santos, Celia, Gallego-Colastra, Leticia, Caparros-Martin, Jose Antonio, Martin-Bravo, Carolina, Martin-Hurtado, Ana, Sánchez-Bellver, Laura, Marfany, Gemma, Ruiz-Perez, Victor L., Garcia-Gonzalo, Francesc R.
Publicado 2023

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

por Caparros‐Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava‐Ferreras, Lucia, Gutierrez, Pilar, Bueno, Ana M., Sagastizabal, Belen, Guillen‐Navarro, Encarna, Ballesta‐Martinez, Maria, Gonzalez, Vanesa, Basaran, Sarenur Y., Buyukoglan, Ruksan, Sarikepe, Bilge, Espinoza‐Valdez, Cecilia, Cammarata‐Scalisi, Francisco, Martinez‐Glez, Victor, Heath, Karen E., Lapunzina, Pablo, Ruiz‐Perez, Victor L.
Publicado 2016

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

por Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S., Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A., Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru-Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F., Martinez-Glez, Victor, Carvajal, Jaime J., Zong, Ruiting, Nelson, David L., Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G., Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L.
Publicado 2019