Zobrazeno 1 - 10
of 12
pro vyhledávání: '"María José Sanchez-Soler"'
Autor:
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intel
Externí odkaz:
https://doaj.org/article/96bb68fe9add4f0698345b5dfbe47645
Autor:
María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Intellectual disability (ID) has a prevalence of 1–3% and aproximately 30–50% of ID cases have a genetic cause. Development of next-generation sequencing has shown a high diagnostic potential. The aim of this work was to evaluate the dia
Externí odkaz:
https://doaj.org/article/e6e8ba58378b4a60bbb269d823070007
Autor:
María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría (English Edition), Vol 96, Iss 3, Pp 253-255 (2022)
Externí odkaz:
https://doaj.org/article/806e90c1be7e413691a5a4d1f8f7c2f1
Autor:
María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría, Vol 96, Iss 3, Pp 253-255 (2022)
Externí odkaz:
https://doaj.org/article/c98c931f811340bbae945aa0f3b1a163
Autor:
Juan Buendía-Martínez, María Barreda-Sánchez, Lidya Rodríguez-Peña, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Elena Pérez-Tomás, Remedios Gil-Ferrer, Francisco Avilés-Plaza, Guillermo Glover-López, Carmen Carazo-Díaz, Encarna Guillén-Navarro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during no
Externí odkaz:
https://doaj.org/article/2d572edc54f34f60976ee25f97abbae7
Autor:
María José Sánchez-Soler, Vanesa López-González, María Juliana Ballesta-Martínez, Jorge Gálvez-Pradillo, Rosario Domingo-Martínez, Virginia Pérez-Fernández, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría, Vol 92, Iss 4, Pp 200-207 (2020)
Resumen: Introducción: Más de 5 millones de niños han sido concebidos por técnicas de reproducción asistida (TRA) a nivel mundial. Aunque la mayoría de los autores no detecta diferencias en cuanto a desarrollo psicomotor, los resultados son aú
Externí odkaz:
https://doaj.org/article/864d61bd3f8a4e97b6eae61ff6ee667f
Autor:
María José Sánchez-Soler, Vanesa López-González, María Juliana Ballesta-Martínez, Jorge Gálvez- Pradillo, Rosario Domingo-Jiménez, Virgina Pérez-Fernández, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría (English Edition), Vol 92, Iss 4, Pp 200-207 (2020)
Introduction: More than five million children have been conceived by assisted reproductive techniques (ART) around the world. Most authors agree that there are no differences in psychomotor development in comparison to naturally conceived children. H
Externí odkaz:
https://doaj.org/article/a98ad128edea45f7b7f5372dedbe33c9
Autor:
María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic trait when the patient is affec
Externí odkaz:
https://doaj.org/article/16b59a2700154415b1be767b79cb1ab8
Autor:
María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta Martínez, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría, Vol 92, Iss 3, Pp 169-171 (2020)
Externí odkaz:
https://doaj.org/article/d3f44afcf99647ada2c18cebceac9994
Autor:
María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta Martínez, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría (English Edition), Vol 92, Iss 3, Pp 169-171 (2020)
Externí odkaz:
https://doaj.org/article/4f345b2eade849828567a9e6b051c5c9