Neonatal detection of 5p13.2 duplication and delineation of the phenotype
Romero, M. Carmen Carrascosa, Hoyo, Rosa García, Calvente, María, Cano, María Baquero, Castillo, Llanos González, Suela, Javier
Published in American journal of medical genetics. Part A (01.04.2012)
Published in American journal of medical genetics. Part A (01.04.2012)
Get full text
Journal Article
Polyhydramnios and Abdominal Distention in a Newborn
Gutiérrez Junquera, Carolina, PhD, Baquero Cano, María, PhD, Medina Monzón, Carmen, MD, Balmaseda Serrano, Elena, MD
Published in The Journal of pediatrics (01.10.2008)
Published in The Journal of pediatrics (01.10.2008)
Get full text
Journal Article
A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3′ − Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay
Marcilla Vázquez, Carlos, Carrascosa Romero, María del Carmen, Martínez Gutiérrez, Andrés, Baquero Cano, María, Alfaro Ponce, Blanca, Dabad Moreno, María Jesús
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2021)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2021)
Get full text
Journal Article
Meningitis víricas neonatales. Importancia de la reacción en cadena de la polimerasa en su diagnóstico
Marcilla Vázquez, Carlos, Martínez Gutiérrez, Andrés, Carrascosa Romero, Mª Carmen, Baquero Cano, María, Alfaro Ponce, Blanca
Published in Revista de neurologiá (16.12.2018)
Published in Revista de neurologiá (16.12.2018)
Get full text
Journal Article
A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3' - Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay
Marcilla Vázquez, Carlos, Carrascosa Romero, María Del Carmen, Martínez Gutiérrez, Andrés, Baquero Cano, María, Alfaro Ponce, Blanca, Dabad Moreno, María Jesús
Published in Journal of pediatric genetics (01.06.2021)
Published in Journal of pediatric genetics (01.06.2021)
Get full text
Report