E-LIB Suche - Ergebnisse für: Pauta, Montse

1

A novel NONO nonsense variant in a fetus with renal abnorma..:

Rodriguez‐Revenga, Laia ; Nadal, Alfons ; Borobio, Virginia...
Prenatal Diagnosis. 44 (2023) 1 - p. 77-80 , 2023

Link: https://doi.org/10.1002/..

2

Diagnostic yield of exome sequencing in isolated fetal grow..:

Pauta, Montse ; Martinez‐Portilla, Raigam J. ; Meler, Eva..
Prenatal Diagnosis. 43 (2023) 5 - p. 596-604 , 2023

Link: https://doi.org/10.1002/..

3

Liver FoxO1 overexpression is positively associated with th..:

Fernández-Galán, Esther ; Sandalinas, Silvia ; Macias-Muñoz, Laura...
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 0 (2023) 0 - p. , 2023

Link: https://doi.org/10.1515/..

4

Monogenic conditions and central nervous system anomalies: ..:

Blayney, Gillian V. ; Laffan, Eoghan ; Jacob, Preethi A....
Prenatal Diagnosis. 44 (2023) 4 - p. 422-431 , 2023

Link: https://doi.org/10.1002/..

5

La sobreexpresión de FoxO1 en el hígado esta positivamente ..:

Fernández-Galán, Esther ; Sandalinas, Silvia ; Macias-Muñoz, Laura...
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 0 (2023) 0 - p. , 2023

Link: https://doi.org/10.1515/..

6

Prenatal Exome Sequencing Analysis in Fetuses with Various ..:

Borrell, Antoni ; Ordoñez, Elena ; Pauta, Montse...
Journal of Clinical Medicine. 13 (2023) 1 - p. 181 , 2023

Link: https://doi.org/10.3390/..

7

Lethal Congenital Contracture Syndrome 11: A Case Report an..:

Potrony, Miriam ; Borrell, Antoni ; Masoller, Narcís...
Journal of Clinical Medicine. 11 (2022) 13 - p. 3570 , 2022

Link: https://doi.org/10.3390/..

8

A New Stepwise Molecular Work-Up After Chorionic Villi Samp..:

Pauta, Montse ; Badenas, Cèlia ; Rodriguez-Revenga, Laia...
Frontiers in Genetics. 11 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

9

Have maternal or paternal ages any impact on the prenatal i..:

Larroya, Marta ; Tortajada, Marta ; Mensión, Eduard...
PLOS ONE. 16 (2021) 7 - p. e0253866 , 2021

Link: https://doi.org/10.1371/..

10

Next-Generation Sequencing Gene Panels and "Solo" Clinical ..:

Pauta, Montse ; Campos, Berta ; Segura-Puimedon, Maria...
Fetal Diagnosis and Therapy. 48 (2021) 10 - p. 746-756 , 2021

Link: https://doi.org/10.1159/..

11

The Contribution of QF-PCR and Pathology Studies in the Dia..:

Benítez, Leticia ; Pauta, Montse ; Badenas, Cèlia...
Diagnostics. 11 (2021) 10 - p. 1811 , 2021

Link: https://doi.org/10.3390/..

12

Prenatal Exome Sequencing in Recurrent Fetal Structural Ano..:

Pauta, Montse ; Martinez-Portilla, Raigam Jafet ; Borrell, Antoni
Journal of Clinical Medicine. 10 (2021) 20 - p. 4739 , 2021

Link: https://doi.org/10.3390/..

13

Histopathology of recurrent Steel syndrome in fetuses cause..:

Frigola, Gerard ; del Rincón, Olga Gómez ; Florián, Virginia Borobio...
Virchows Archiv. 479 (2021) 2 - p. 413-418 , 2021

Link: https://doi.org/10.1007/..

14

Maternal plasma genome-wide cell-free DNA can detect fetal ..:

Borrell, Antoni ; Martinez-Portilla, Raigam ; Paz-y-Miño, Fernanda...
Human Reproduction. 35 (2020) 5 - p. 1222-1229 , 2020

Link: https://doi.org/10.1093/..

15

A Randomized Controlled Trial on the Influence of Prenatal ..:

Paz y Miño, Fernanda ; Martinez-Portilla, Raigam Jafet ; Pauta, Montse.
Frontiers in Genetics. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..