Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador von Pozo-Palacios, Juan, Llamos-Paneque, Arianne, Rivas, Christian, Onofre, Emily, Lopez-Caceres, Andrea, Villareal, Jenniffer

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Rubinstein–Taybi syndrome in diverse populations von Tekendo‐Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A., Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angélica, Huckstadt, Victoria, Ashaat, Engy A., Hussen, Dalia Farouk, Luk, Ho‐Ming, Lo, Ivan F. M., Hon‐Yin Chung, Brian, Fung, Jasmine L. F., Moretti‐Ferreira, Danilo, Batista, Letícia Cassimiro, Lotz‐Esquivel, Stephanie, Saborio‐Rocafort, Manuel, Badilla‐Porras, Ramses, Penon Portmann, Monica, Jones, Kelly L., Abdul‐Rahman, Omar A., Uwineza, Annette, Prijoles, Eloise J., Ifeorah, Ifeanyi Kanayo, Llamos Paneque, Arianne, Sirisena, Nirmala D., Dowsett, Leah, Lee, Sansan, Cappuccio, Gerarda, Kitchin, Carolyn Sian, Diaz‐Kuan, Alicia, Thong, Meow‐Keong, Obregon, María Gabriela, Mutesa, Leon, Dissanayake, Vajira H. W., El Ruby, Mona O., Brunetti‐Pierri, Nicola, Ekure, Ekanem Nsikak, Stevenson, Roger E., Muenke, Maximilian, Kruszka, Paul

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Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology von Elouej, Sahar, Harhouri, Karim, Mao, Morgane Le, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

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Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome von Klingbeil, Kyle D, Greenland, Christopher M, Arslan, Selcuk, Llamos Paneque, Arianne, Gurkan, Hakan, Demir Ulusal, Selma, Maroofian, Reza, Carrera-Gonzalez, Andrea, Montufar-Armendariz, Stefany, Paredes, Rosario, Elcioglu, Nursel, Menendez, Ibis, Behnam, Mahdiyeh, Foster, Joseph, Guo, Shengru, Escarfuller, Sebastian, Cengiz, Filiz Basak, Duman, Duygu, Bademci, Guney, Tekin, Mustafa

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Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms von Paz‐y‐Miño, César, Yumiceba, Verónica, Moreta, Germania, Paredes, Rosario, Ruiz, Mónica, Ocampo, Ligia, Llamos Paneque, Arianne, Ochoa Pérez, Catalina, Ruiz‐Cabezas, Juan Carlos, Álvarez Vidal, Jenny, Jiménez Torres, Idarmis, Vargas‐Vera, Ramón, Cruz, Fernando, Guapi N, Víctor Hugo, Montalván, Martha, Meneses Álvarez, Sara, Garzón Castro, Maribel, Lamar Segura, Elizabeth, Recalde Báez, María Augusta, Naranjo, María Elena, Tambaco Jijón, Nina, Sinche, María, Licuy, Pedro, Burgos, Ramiro, Porras‐Borja, Fabián, Echeverría‐Garcés, Gabriela, Pérez‐Villa, Andy, Armendáriz‐Castillo, Isaac, García‐Cárdenas, Jennyfer M., Guerrero, Santiago, Guevara‐Ramírez, Patricia, López‐Cortés, Andrés, Zambrano, Ana Karina, Leone, Paola E.

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Becker Phenotype Muscular Dystrophy in a Man with Klinefelter Syndrome: A Rare Association von Llamos-Paneque, Arianne, Echevarria-Frutos, Isabel, León-Siosa, Amaury, Herrmann, Tanja, Liehr, Thomas

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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology von Elouej, Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

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Turner syndrome associated with Down syndrome: about a case von Llamos-Paneque, Arianne, Pozo-Palacios, Juan C., Sancan-Jalca, Byron, Garzón-Castro, Maribel, Lamar-Segura, Elizabeth, Óacato-Pachacama, Karen L., Tiehr, Thomas L.

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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology (vol von Elouej, Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Holya, Al Menabawy, Nihal, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-Francois, Rotig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Levy, Nicolas, De Sandre-Giovannoli, Annachiara

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Rubinstein-Taybisyndrome in diverse populations von Tekendo-Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A., Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angelica, Huckstadt, Victoria, Ashaat, Engy A., Hussen, Dalia Farouk, Luk, Ho-Ming, Lo, Ivan F. M., Hon-Yin Chung, Brian, Fung, Jasmine L. F., Moretti-Ferreira, Danilo, Batista, Leticia Cassimiro, Lotz-Esquivel, Stephanie, Saborio-Rocafort, Manuel, Badilla-Porras, Ramses, Penon Portmann, Monica, Jones, Kelly L., Abdul-Rahman, Omar A., Uwineza, Annette, Prijoles, Eloise J., Ifeorah, Ifeanyi Kanayo, Llamos Paneque, Arianne, Sirisena, Nirmala D., Dowsett, Leah, Lee, Sansan, Cappuccio, Gerarda, Kitchin, Carolyn Sian, Diaz-Kuan, Alicia, Thong, Meow-Keong, Obregon, Maria Gabriela, Mutesa, Leon, Dissanayake, Vajira H. W., El Ruby, Mona O., Brunetti-Pierri, Nicola, Ekure, Ekanem Nsikak, Stevenson, Roger E., Muenke, Maximilian, Kruszka, Paul

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Variantes citogenéticas en pacientes con síndrome de Turner diagnosticadas en un hospital de tercer nivel de atención en Ecuador von Llamos-Paneque, Arianne, Óacato, Karen L., Lamar-Segura, Elizabeth, Garzón-Castro, Maribel, Recalde-Báez, María A., Román-Naranjo, María E., Vásquez, Gabriel

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Análisis de las malformaciones congénitas detectadas por el programa alfafetoproteína-ultrasonido genético von Llamos Paneque, Aicha Julia, Llamos Paneque, Arianne, Martínez de Santelises Cuervo, Alicia, Powell Castro, Zaymar L., Pérez Olivera, Eldys

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Varones 46, XX: a propósito de dos casos genéticamente distintos von Paneque, Arianne Llamos, Armendáriz, Stefany Montúfar, Reyes Silva, Carlos Alberto, Garzón Castro, Maribel de los Ángeles, Tambaco Jijón, Nina Jacinta

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Premisas éticas en el diagnóstico prenatal de defectos congénitos en Cuba von Rojas Betancourt, Iris Andrea, Llamos Paneque, Arianne, Marcheco Teruel, Beatriz

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Análisis de las malformaciones congénitas detectadas por el programa alfafetoproteína-ultrasonido genético Analysis of the congenital malformations detected by the alpha-fetoprotei... von Aicha Julia Llamos Paneque, Arianne Llamos Paneque, Alicia Martínez de Santelises Cuervo, Zaymar L. Powell Castro, Eldys Pérez Olivera

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