Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome

por Elizondo-Plazas, Anasofia, Ibarra-Ramírez, Marisol, Garza-Báez, Azalea, Martínez-de-Villarreal, Laura Elia
Publicado 2020

Expression profile of microRNAs in the testes of patients with Klinefelter syndrome

por Ibarra-Ramírez, Marisol, Calvo-Anguiano, Geovana, Lugo-Trampe, José de Jesús, Martínez-de-Villarreal, Laura Elia, Rodríguez-Torres, David, Nistal, Manuel, González-Peramato, Pilar
Publicado 2020

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

por Ibarra-Ramirez, Marisol, Campos-Acevedo, Luis Daniel, Lugo-Trampe, Jose, Martínez-Garza, Laura E., Martinez-Glez, Víctor, Valencia-Benitez, María, Lapunzina, Pablo, Ruiz-Peréz, Víctor
Publicado 2017

Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis

por Salinas‐Torres, Víctor M., Gallardo‐Blanco, Hugo L., Salinas‐Torres, Rafael A., Cerda‐Flores, Ricardo M., Lugo‐Trampe, José J., Villarreal‐Martínez, Daniel Z., Ibarra‐Ramírez, Marisol, Martínez de Villarreal, Laura E.
Publicado 2020

Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease

por Martinez-Fierro, Margarita L., Cabral-Pacheco, Griselda A., Garza-Veloz, Idalia, Acuña-Quiñones, Jesus, Martinez-de-Villarreal, Laura E., Ibarra-Ramirez, Marisol, Beuten, Joke, Sanchez-Guerrero, Samantha E., Villarreal-Martinez, Laura, Delgado-Enciso, Ivan, Rodriguez-Sanchez, Iram P., Zuñiga-Ramirez, Vania Z., Cardenas-Vargas, Edith, Romero-Diaz, Viktor
Publicado 2021

Molecular Characterization of Associated Pathogens in Febrile Patients during Inter-Epidemic Periods of Urban Arboviral Diseases in Tapachula Southern Mexico

por Calvo-Anguiano, Geovana, Lugo-Trampe, José de Jesús, Ponce-García, Gustavo, Lugo-Trampe, Angel, Martinez-Garza, Laura Elia, Ibarra-Ramirez, Marisol, Campos-Acevedo, Luis Daniel, Caballero-Sosa, Sandra, Juache-Villagrana, Alan Esteban, Fernández-Salas, Ildefonso, Flores-Suarez, Adriana Elizabeth, Rodriguez-Sanchez, Iram Pablo, Trujillo-Murillo, Karina del Carmen
Publicado 2021

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010–2017

por Morris, Joan, Orioli, Ieda M, Benavides-Lara, Adriana, de la Paz Barboza-Arguello, María, Tapia, Maria Aurora Canessa, de França, Giovanny Vinícius Araújo, Groisman, Boris, Holguin, Jorge, Hurtado-Villa, Paula Margarita, Ibarra Ramirez, Marisol, Mellado, Cecilia, Pardo, Rosa, Pastora Bucardo, Dania Maria, Rodríguez, Catherin, Zarante, Ignacio, Limb, Elizabeth, Dolk, Helen
Publicado 2021

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

por Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Romero Sánchez, Juan, Suthar, Renu, Udani, Vrajesh, Nalini, Atchayaram, Unnikrishnan, Gopikrishnan, Marques, Wilson, Mercier, Sandra, Procaccio, Vincent, Bris, Céline, Suresh, Beena, Reddy, Vaishnavi, Skorupinska, Mariola, Bonello-Palot, Nathalie, Mochel, Fanny, Dahl, Georg, Sasidharan, Karthika, Devassikutty, Fiji M, Nampoothiri, Sheela, Rodovalho Doriqui, Maria J, Müller-Felber, Wolfgang, Vill, Katharina, Haack, Tobias B, Dufke, Andreas, Abele, Michael, Stucka, Rolf, Siddiqi, Saima, Ullah, Noor, Spranger, Stephanie, Chiabrando, Deborah, Bolgül, Behiye S, Parman, Yesim, Seeman, Pavel, Lampert, Angelika, Schulz, Jörg B, Wood, John N, Cox, James J, Auer-Grumbach, Michaela, Timmerman, Vincent, de Winter, Jonathan, Themistocleous, Andreas C, Shy, Michael, Bennett, David L, Baets, Jonathan, Hübner, Christian A, Leipold, Enrico, Züchner, Stephan, Elbracht, Miriam, Çakar, Arman, Senderek, Jan, Hornemann, Thorsten, Woods, C Geoffrey, Reilly, Mary M, Kurth, Ingo
Publicado 2023