E-LIB Suche - Ergebnisse für: Ezquieta, Begoña

1

Genotypic Findings in Noonan and Non-Noonan RASopathies and..:

Carcavilla, Atilano ; Cambra, Ana ; Santomé, José...
Journal of Clinical Medicine. 12 (2023) 15 - p. 5003 , 2023

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

2

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A..:

Arriba, María ; Ezquieta, Begoña
Frontiers in Endocrinology. 13 (2022) - p. , 2022

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

3

A new synonymous variant involving an mRNA splicing site in..:

Arriba, María ; Oriola, Josep ; Ezquieta, Begoña
Clinical Genetics. 100 (2021) 5 - p. 634-636 , 2021

Link: https://doi.org/10.1111/..

4

Recommendations for the preparation of diagnostic genetic r..:

Oriola, Josep ; Carrasco, Pilar ; Díez, Orland.
Medicina Clínica (English Edition). 153 (2019) 7 - p. 293-297 , 2019

Link: https://doi.org/10.1016/..

5

Recommendations for the diagnosis and treatment of classic ..:

Rodríguez, Amparo ; Ezquieta, Begoña ; Labarta, José Igancio...
Anales de Pediatría (English Edition). 87 (2017) 2 - p. 116.e1-116.e10 , 2017

Link: https://doi.org/10.1016/..

6

Cardiofaciocutaneous syndrome, a Noonan syndrome related di..:

Carcavilla, Atilano ; García-Miñaúr, Sixto ; Pérez-Aytés, Antonio...
Medicina Clínica (English Edition). 144 (2015) 2 - p. 67-72 , 2015

Link: https://doi.org/10.1016/..

7

High Incidence of Noonan Syndrome Features Including Short ..:

Rojnueangnit, Kitiwan ; Xie, Jing ; Gomes, Alicia...
Human Mutation. 36 (2015) 11 - p. 1052-1063 , 2015

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

8

LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Ass..:

Carcavilla, Atilano ; Santomé, José L. ; Pinto, Isabel...
Revista Española de Cardiología (English Edition). 66 (2013) 5 - p. 350-356 , 2013

Link: https://doi.org/10.1016/..

9

Alterations in RAS-MAPK Genes in 200 Spanish Patients With ..:

Ezquieta, Begoña ; Santomé, José L. ; Carcavilla, Atilano...
Revista Española de Cardiología (English Edition). 65 (2012) 5 - p. 447-455 , 2012

Link: https://doi.org/10.1016/..

10

LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling n..:

Carcavilla, Atilano ; Pinto, Isabel ; Muñoz-Pacheco, Rafael...
European Journal of Pediatrics. 170 (2011) 8 - p. 1069-1074 , 2011

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

11

Carrier detection and prenatal diagnosis of congenital adre..:

Ezquieta, Begoña ; Santomé, Luis ; Barrio, Raquel...
Prenatal Diagnosis. 30 (2010) 8 - p. 758-763 , 2010

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

12

An XX male with an intratubular undifferentiated germ cell ..:

Carcavilla, Atilano ; Alonso, Milagros ; Ezquieta, Begoña...
Fertility and Sterility. 90 (2008) 5 - p. 2005.e3-2005.e5 , 2008

Link: https://doi.org/10.1016/..

13

Should 21-hydroxylase deficiency genotyping be considered i..:

Ezquieta, Begoña ; Alonso, Milagros ; Alvarez, Eduardo...
Fertility and Sterility. 88 (2007) 5 - p. 1437.e5-1437.e11 , 2007

Link: https://doi.org/10.1016/..

14

MICROSATELLITE MARKERS IN THE INDIRECT ANALYSIS OF THE STER..:

EZQUIETA, BEGOÑA ; JARIEGO, CARLOS ; VARELA, JOSÉ M...
Prenatal Diagnosis. 17 (1997) 5 - p. 429-434 , 1997

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

15

Analysis of steroid 21-hydroxylase gene mutations in the Sp..:

Ezquieta, Begoña ; Oliver, Antonio ; Gracia, Ricardo.
Human Genetics. 96 (1995) 2 - p. 198-204 , 1995

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