Emmanouil Manolakos
Dados Biográficos
| ID | 8257553 |
|---|---|
| NOME | Emmanouil Manolakos |
| PRENOMES | Emmanouil |
| SOBRENOME | Manolakos |
| ASSINATURA | MANOLAKOS E |
| AFILIAÇÕES | University of Cagliari |
| VERIFICADO | Não |
| TOTAL DE OBRAS | 1 |
| TOTAL DE CITAÇÕES | 0 |
| OBRAS COMO AUTOR | 1 |
| OBRAS COMO EDITOR | 0 |
| PRIMEIRO ANO DE PUBLICAÇÃO | 2022 |
| ANO MAIS RECENTE DE PUBLICAÇÃO | 2022 |
| ÍNDICE H | 0 |
Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS)
Our findings portray an association between the new MCPH1 mutation (c.348del) and the clinical features of autosomal recessive primary microcephaly (MCPH), contributing to a broader spectrum related to these pathologies. To our knowledge, this is the first prenatal diagnosis of MCPH due to a novel MCPH1 mutation
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Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS)
Our findings portray an association between the new MCPH1 mutation (c.348del) and the clinical features of autosomal recessive primary microcephaly (MCPH), contributing to a broader spectrum related to these pathologies. To our knowledge, this is the first prenatal diagnosis of MCPH due to a novel MCPH1 mutation
Biology (1 obra) · Chorionic villus sampling (1 obra) · Chromosomal and Genetic Variations (1 obra) · Fetus (1 obra) · Gene (1 obra) · Genetics (1 obra) · Genetics and Neurodevelopmental Disorders (1 obra) · Microcephaly (1 obra) · Microtubule and mitosis dynamics (1 obra) · Mutation (1 obra)