A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency von Carlosama, Carolina, Elzaiat, Maëva, Patiño, Liliana C, Mateus, Heidi E, Veitia, Reiner A, Laissue, Paul

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Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations von Fonseca, Dora Janeth, Ph.D, Patiño, Liliana Catherine, M.Sc, Suárez, Yohjana Carolina, M.Sc, de Jesús Rodríguez, Asid, M.Sc, Mateus, Heidi Eliana, M.D., M.Sc, Jiménez, Karen Marcela, M.Sc, Ortega-Recalde, Oscar, M.D., M.Sc, Díaz-Yamal, Ivonne, M.D, Laissue, Paul, M.D., Ph.D

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Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis von Fonseca, Dora Janeth, Caro, Luz Adriana, Sierra-Díaz, Diana Carolina, Serrano-Reyes, Carlos, Londoño, Olga, Suárez, Yohjana Carolina, Mateus, Heidi Eliana, Bolívar-Salazar, David, Ramírez, Ana Francisca, de-la-Torre, Alejandra, Laissue, Paul

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Identification of mutations in Colombian patients affected with Fabry disease von Uribe, Alfredo, Mateus, Heidi Eliana, Prieto, Juan Carlos, Palacios, Maria Fernanda, Ospina, Sandra Yaneth, Pasqualim, Gabriela, da Silveira Matte, Ursula, Giugliani, Roberto

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The experience of Colombian boys and young men living with Duchenne muscular dystrophy von Palacios-Espinosa, Ximena, Mateus, Heidi, Dávalos, Martha, Gracia, Jennifer, Bastidas-Bilbao, Hamer

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Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family von Ke, Tie, Gomez, Cladelis Rubio, Mateus, Heidi Eliana, Castano, Juan Andres, Wang, Qing Kenneth

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A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations von Ortega-Recalde, Oscar, Fonseca, Dora Janeth, Patiño, Liliana Catherine, Atuesta, Juan Jaime, Rivera-Nieto, Carolina, Restrepo, Carlos Martín, Mateus, Heidi Eliana, van der Knaap, Marjo S, Laissue, Paul

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Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype von Ojeda, Diego, M.Sc, Lakhal, Besma, Ph.D, Fonseca, Dora Janneth, M.Sc, Braham, Rim, M.D, Landolsi, Hanène, Ph.D, Mateus, Heidi Eliana, M.D, Restrepo, Carlos Martín, M.D., Ph.D, Elghezal, Hatem, M.D, Saâd, Ali, M.D., Ph.D, Laissue, Paul, M.D., Ph.D

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Lack of association of polymorphisms in six candidate genes in colombian adhd patients von Fonseca, Dora J, Mateus, Heidi E, Gálvez, Jubby M, Forero, Diego A, Talero-Gutierrez, Claudia, Velez-van-Meerbeke, Alberto

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Cost-Effectiveness Analysis of Diagnosis of Duchenne/Becker Muscular Dystrophy in Colombia von Atehortúa, Sara C., Lugo, Luz H., Ceballos, Mateo, Orozco, Esteban, Castro, Paula A., Arango, Juan C., Mateus, Heidi E.

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Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder von Castro, Taryn, Mateus, Heidi Eliana, Fonseca, Dora Janeth, Forero, Diego, Restrepo, Carlos Martín, Talero, Claudia, Vélez, Alberto, Laissue, Paul

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A first description of the Colombian national registry for rare diseases von Mateus, Heidi Eliana, Pérez, Ana María, Mesa, Martha Lucía, Escobar, Germán, Gálvez, Jubby Marcela, Montaño, José Ivo, Ospina, Martha Lucía, Laissue, Paul

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Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease von Niño, Mónica Yasmín, Mateus, Heidi Eliana, Fonseca, Dora Janeth, Kroos, Marian A., Ospina, Sandra Yaneth, Mejía, Juan Fernando, Uribe, Jesús Alfredo, Reuser, Arnold J. J., Laissue, Paul

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Experiencias de cuidadoras de niños con Distrofia Muscular de Duchenne: "Cuando lo volteo a mirar, se me une el cielo con la tierra" von Palacios-Espinosa, Ximena, Vera-Márquez, Ángela Victoria, Mateus, Heidi, Serrano, Martha Liliana Dávalos, Gracia-Ruiz, Jennifer, Huertas, Julián Felipe

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Experiences of caregivers of boys with Duchenne Muscular Dystrophy: When I look at him, my world falls apart von Palacios-Espinosa, Ximena, Vera-Márquez, Ángela Victoria, Mateus, Heidi, Dávalos Serrano, Martha Liliana, Gracia-Ruiz, Jennifer, Huertas, Julián Felipe

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Correlación genotipo-fenotipo y análisis molecular en pacientes con síndrome Down von Contreras Bravo, Nora Constanza, Silva Aldana, Claudia Tamar, Mateus Arbelaez, Heidi Eliana

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Experiences of caregivers of boys with Duchenne Muscular Dystrophy: “When I look at him, my world falls apart” von Ximena Palacios-Espinosa, Ángela Victoria Vera-Márquez, Heidi Mateus, Martha Liliana Dávalos Serrano, Jennifer Gracia-Ruiz, Julián Felipe Huertas

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Experiencias de cuidadoras de niños con Distrofia Muscular de Duchenne: "Cuando lo volteo a mirar, se me une el cielo con la tierra" von Palacios-Espinosa, Ximena, Vera-Márquez, Ángela Victoria, Mateus, Heidi, Serrano, Martha Liliana Dávalos, Gracia-Ruiz, Jennifer, Huertas, Julián Felipe

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Pérdida de heterocigocidad e identificación de portadoras de distrofia muscular de Duchenne: un caso familiar con evento de recombinación von Silva Aldana, Claudia, Mateus Arbeláez, Heidi, Fonseca Mendoza, Dora Janeth

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Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease von Salazar, Marleny, Villalba, Guiovanny, Mateus, Heidi, Villegas, Victoria, Fonseca, Dora, Núñez, Federico, Caicedo, Víctor, Pachón, Sonia, Bernal, Jaime E

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