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601Article of journalPor Garzón Venegas, Eliana del Pliar; Rubio Gómez, Cladelis; Carpeta Sánchez, Suleima; Vélez Segura, Jennifer; Blanco Gómez, Jenny; Beltrán Moreno, Paola Andrea; Sánchez MD, Diana; Serrano MD, Claudia Juliana; Bonilla, Juan CarlosPublished in 2018Repositorio Repositorio Digital Institucional ReDiGet full text
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602Article of investigationPor Mooney, Jazlyn; Huber, Christian; Service, Susan; Hoon Sul, Jae; Marsden, Clare; Zhang, Zhongyang; Sabatti, Chiara; Ruíz Linares, Andrés; Bedoya Berrio, Gabriel De JesúsPublished in 2018Repositorio Repositorio UdeA“... variants are recessive. Our study suggests that there is no single genetic signature of a population...”
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603Article of investigationPor Arcos Burgos, Oscar Mauricio; Yupanqui Lozno, Hernan; Bastarrachea Sosa, Raul A.; Yupanqui Velazco, Maria E.; Álvarez Jaramillo, Mónica; Medina Méndez, Esteban; Giraldo Peña, Aida P.; Arias Serrano, Alexandra; Torres Forero, Carolina; García Ordoñez, Angélica María; Mastronardi, Claudio Alberto; Restrepo, Carlos M.; Rodríguez Ayala, Ernesto; Nava González, Edna Judith; Kent Jr., Jack W.; Cole, Shelley A.; Licinio, Julio; Celis Regalado, Luis GustavoPublished in 2019Repositorio Repositorio UdeA“...ABSTRACT: Background: Congenital leptin deficiency is a recessive genetic disorder associated...”
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604Trabajo de grado de pregradoPublished in 2019Repositorio Repositorio Institucional - RIBUCGet full text
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605Article of journalPublished in 2023Repositorio Repositorio U. El Bosque“...Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder...”
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606Published in 2012Repositorio Repositorio EdocUR - U. Rosario“... family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LODmax...”
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607Trabajo de grado de pregradoPublished in 2018Repositorio Repositorio Institucional USTAGet full text
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610Article of journalPor Ramírez Castro, José Luis; Cock Rada, Alicia María; Mora Henao, Beatriz Eugenia; Ramírez Gaviria, Gloria Cecilia; Vásquez Palacio, Gonzálo de Jesús; Prada Quiroz, Ana ElviraPublished in 2005Repositorio Repositorio UdeAGet full text
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611Article of investigationPor Fonseca González, Idalyd; Rojas, Nancy; Isaza de Lourido, Carolina; Arcos Burgos, Oscar MauricioPublished in 2000Repositorio Repositorio UdeA“... major gene only, the existence of a recessive major gene, that of non major component in the mixed model...”
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612Article of investigationPor Benincore Flórez, Eliana; El-Azaz, Jorge; Solarte, Gabriela Alejandra; Rodríguez, Alexander; Reyes, Luis; Alméciga-Díaz, Carlos Javier; Ramírez, Carolina CardonaPublished in 2022Repositorio Repositorio Institucional UDCA“...Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive...”
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613Trabajo de grado de pregradoPublished in 2019Repositorio Repositorio Institucional USTAGet full text
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614masterThesisPublished in 2021Repositorio Repositorio Universidad JaverianaGet full text
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615Por Acuña, Claudia; Baldovino, María Fernanda; Corrales, Sunilda; Escobar, Mayra; Fulleda, Pamela; Polo, KevinPublished in 2021Repositorio Repositorio UninorteGet full text
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616Article of journalPor Giraldo, Gustavo Adolfo; ayala, paola; prieto, juan carlos; García-Robles, Reggie; ACOSTA GUIO, JOHANNA CAROLINAPublished in 2016Repositorio Repositorio U. El Bosque“... recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB...”
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617Por Plata Garcia, Clara; Peña, Stephania; Rodríguez Urrego, Olga; Mora Quintero, Diana; Sánchez Franco, Claudia; Sarmiento Quintero, FernandoPublished in 2017Repositorio Repositorio U. El BosqueGet full text
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618Por Silva, Luis E.; Prada, Leidy P.; Buitrago, Andrés F.; Franco, Carlos; Sánchez, Robinson; Páez, Hugo; Rendón, Iván D.Published in 2012Repositorio Repositorio U. El BosqueGet full text
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619Article of investigationPor Moreno Uribe, Lina María; Arcos Burgos, Oscar Mauricio; Marazita, Mary Louise; Krahn, Katherine; Maher, Brion; Cooper, Margaret; Valencia Ramírez, Luz Consuelo; Lidral, AndrewPublished in 2004Repositorio Repositorio UdeA“...), and Xcen-q21.Linkage was performed using parametric(dominant and recessive models) and non-parametric...”
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