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Research Interests

Papers共 113 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Triplication of PCDH19 gene as a potential novel disease mechanism associated to epilepsy phenotype resembling loss-of-function mutations
Francisco Martinez,Carmen Orellana,Monica Rosello Piera, Sandra Monfort Membrado, Juan Silvestre Oltra Soler,Carla Martin-Grau, Alba Gabaldon Albero
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 191-191
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Novel genotypic and phenotypic spectrum of PIGP deficiency associated to multiple congenital anomalies
Carla Martin-Grau,Carmen Orellana,Monica Rosello Piera, Laia Pedrola Vidal,Roberto Llorens-Salvador, Ramiro Quiroga,Purificacion Marin Reina, Juan Salvador Rubio Moll, Rosa Portero Gomez, Juan Silvestre Oltra Soler, Sandra Monfort Membrado, Alfonso Caro Llopis,
EUROPEAN JOURNAL OF HUMAN GENETICS（2024）
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New variants expand the neurological phenotype of COQ7 deficiency
María Alcázar Fabra,Abraham J Paredes-Fuentes, Manuel Torralba Carnerero, Daniel J Moreno Férnandez de Ayala, Antonio Arroyo Luque, Ana Sánchez Cuesta, Carmine Staiano,Paula Sanchez-Pintos, María Luz Couce, Miguel Tomás, Ana Victoria Marco-Hernández,Carmen Orellana,
Journal of inherited metabolic disease (2024)
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Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern
Alba Gabaldon-Albero, Lourdes Cordon, Amparo Sempere, Laia Pedrola, Carla Martin-Grau,Silvestre Oltra, Sandra Monfort, Alfonso Caro-Llopis, Marta Dominguez-Martinez, Sara Hernandez-Muela,Monica Rosello,Carmen Orellana,
Genesno. 6 (2024): 802
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