Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia von Marino, Roxana, Garrido, Natalia Perez, Ramirez, Pablo, Notaristéfano, Guillermo, Moresco, Angélica, Touzon, Maria Sol, Vaiani, Elisa, Finkielstain, Gabriela, Obregón, María Gabriela, Balbi, Viviana, Soria, Ianina, Belgorosky, Alicia

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Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina von Chinton, Josefina, Huckstadt, Victoria, Moresco, Angélica, Gravina, L Pablo, Obregon, M Gabriela

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Providing more evidence on LZTR1 variants in Noonan syndrome patients von Chinton, Josefina, Huckstadt, Victoria, Mucciolo, Mafalda, Lepri, Francesca, Novelli, Antonio, Gravina, Luis Pablo, Obregon, María Gabriela

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals von Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Mori, María Ángeles, Milá, Montserrat, Del Campo, Miguel, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C, Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez-Jurado, Luis, Barcia, Ana, Martín, Maria Soledad, Mansilla, Elena, Vallcorba, Isabel, García-Murillo, Pedro, Cammarata-Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapunzina, Pablo

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22q11.2 deletion syndrome in diverse populations von Kruszka, Paul, Addissie, Yonit A., McGinn, Daniel E., Porras, Antonio R., Biggs, Elijah, Share, Matthew, Crowley, T. Blaine, Chung, Brian H. Y., Mok, Gary T. K., Mak, Christopher C. Y., Muthukumarasamy, Premala, Thong, Meow‐Keong, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Prabodha, L. B. Lahiru, Mishra, Rupesh, Shotelersuk, Vorasuk, Ekure, Ekanem Nsikak, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Ferreira, Carlos R., Duncan, Jordann‐Mishael, Patil, Siddaramappa Jagdish, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Richieri‐Costa, Antonio, Gil‐da‐Silva‐Lopes, Vera L., Adeyemo, Adebowale A., Summar, Marshall, Zackai, Elaine H., McDonald‐McGinn, Donna M., Linguraru, Marius George, Muenke, Maximilian

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Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients von Loos, Mariana Amina, Gomez, Gimena, Mayorga, Lía, Caraballo, Roberto Horacio, Eiroa, Hernán Diego, Obregon, María Gabriela, Rugilo, Carlos, Lubieniecki, Fabiana, Taratuto, Ana Lía, Saccoliti, María, Alonso, Cristina Noemi, Aráoz, Hilda Verónica

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Down syndrome in diverse populations von Kruszka, Paul, Porras, Antonio R., Sobering, Andrew K., Ikolo, Felicia A., La Qua, Samantha, Shotelersuk, Vorasuk, Chung, Brian H. Y., Mok, Gary T. K., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Joseph, Daniel Akinsanya, Ikebudu, Desmond, Ugwu, Christopher Emeka, Okoromah, Christy A. N., Addissie, Yonit A., Pardo, Katherine L., Brough, J. Joseph, Lee, Ni‐Chung, Girisha, Katta M., Patil, Siddaramappa Jagdish, Ng, Ivy S. L., Min, Breana Cham Wen, Jamuar, Saumya S., Tibrewal, Shailja, Wallang, Batriti, Ganesh, Suma, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Prabodha, L. B. Lahiru, Richieri‐Costa, Antonio, Muthukumarasamy, Premala, Thong, Meow‐Keong, Jones, Kelly L., Abdul‐Rahman, Omar A., Ekure, Ekanem Nsikak, Adeyemo, Adebowale A., Summar, Marshall, Linguraru, Marius George, Muenke, Maximilian

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A Molecular Characterization of the Allelic Expression of the BRCA1 Founder Δ9-12 Pathogenic Variant and Its Potential Clinical Relevance in Hereditary Cancer von Dominguez-Ortiz, Julieta, Álvarez-Gómez, Rosa M, Montiel-Manríquez, Rogelio, Cedro-Tanda, Alberto, Alcaraz, Nicolás, Castro-Hernández, Clementina, Bautista-Hinojosa, Luis, Contreras-Espinosa, Laura, Torres-Maldonado, Leda, Fragoso-Ontiveros, Verónica, Sánchez-Contreras, Yuliana, González-Barrios, Rodrigo, Fuente-Hernández, Marcela Angélica De la, Mejía-Aguayo, María de la Luz, Juárez-Figueroa, Ulises, Padua-Bracho, Alejandra, Sosa-León, Rodrigo, Obregon-Serrano, Gabriela, Vidal-Millán, Silvia, Núñez-Martínez, Paulina María, Pedroza-Torres, Abraham, Nicasio-Arzeta, Sergio, Rodríguez, Alfredo, Luna, Fernando, Cisneros-Soberanis, Fernanda, Frías, Sara, Arriaga-Canon, Cristian, Herrera-Montalvo, Luis A

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Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported von Huckstadt, Victoria, Chinton, Josefina, Gomez, Abel, Obregon, María Gabriela, Gravina, Luis Pablo

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Calorific Value of Biogas Obtained by Cavia Porcellus Biomass von Lessly Palacios, Gabriela Obregon, Jhonny Valverde Flores, Carlos Olivera, Elmer Benites

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Homozygous N540K hypochondroplasia-First report: Radiological and clinical features von De Rosa, M. Laura Garcia, Fano, Virginia, Araoz, H. Verónica, Chertkoff, Lilien, Obregon, M. Gabriela

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Challenges in genetic diagnosis, co‐occurrence of 22q11.2 deletion syndrome and Noonan syndrome von Chinton, Josefina, Huckstadt, Victoria, Foncuberta, Maria Eugenia, Perez, Maria Mercedes, Bonetto, Mara Cecilia, Gravina, Luis Pablo, Obregon, María Gabriela

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SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation von del Pino, Mariana, Aza-Carmona, Miriam, Medino-Martín, David, Gomez, Abel, Heath, Karen E., Fano, Virginia, Obregon, María Gabriela

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Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation von Ramos Mejía, Rosario, Aza-Carmona, Miriam, del Pino, Mariana, Heath, Karen E., Fano, Virginia, Obregon, Maria Gabriela

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La perfección del contrato en Internet según el ordenamiento jurídico español. Especial referencia al caso de las páginas web von Obregon Siegmund, Gabriela Natalia

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Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients von Caino, Silvia, Cubilla, Marisa Angelica, Alba, Romina, Obregón, María Gabriela, Fano, Virginia, Gómez, Abel, Zecchini, Lorena, Lapunzina, Pablo, Aza-Carmona, Miriam, Heath, Karen E, Asteggiano, Carla Gabriela

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La perfección del contrato en Internet según el ordenamiento jurídico español. Especial referencia al caso de las páginas web von Obregon Siegmund, Gabriela Natalia

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Clinical and radiological heterogeneity for the rare FGFR3 variant, p. Ser344Cys , description of a third patient von del Pino, Mariana, Huckstadt, Victoria, Diaz‐Gonzalez, Francisca, Obregon, Maria Gabriela, Heath, Karen E., Fano, Virginia

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Noonan syndrome in diverse populations von Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., Muenke, Maximilian

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Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient von del Pino, Mariana, Huckstadt, Victoria, Diaz‐Gonzalez, Francisca, Obregon, Maria Gabriela, Heath, Karen E., Fano, Virginia

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