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1 . Academic Journal
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment
저자
by
Atilano Carcavilla
;
Ana Cambra
;
José L. Santomé
;
Verónica Seidel
;
Jaime Cruz
, et al.
소스
Journal of Clinical Medicine, Vol 12, Iss 15, p 5003 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach
저자
by
María Arriba
;
Begoña Ezquieta
.
소스
Frontiers in Endocrinology, Vol 13 (2022)
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4 .
A new synonymous variant involving an
mRNA
splicing site in
CYP21A2
detected in 12 unrelated patients with deficiency of 21‐hydroxylase
저자
by
Josep Oriola
;
Maria Arriba
;
Begoña Ezquieta
.
소스
Clinical Genetics
. 100:634-636
Web of Science
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5 .
Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach
저자
by
María Arriba
;
Begoña Ezquieta
.
소스
Frontiers in endocrinology
. 13
Open Access (OpenAIRE)
Scopus
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4 .
Recommendations for the preparation of diagnostic genetic reports in the clinical setting
저자
by
Orland Diez
;
Pilar Carrasco
;
Begoña Ezquieta
;
Josep Oriola
.
소스
Medicina Clínica (English Edition)
. 153:293-297
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6 .
Recomendaciones para la elaboración de informes genéticos de diagnóstico en el ámbito asistencial
저자
by
Josep Oriola
;
Pilar Carrasco
;
Orland Díez
;
Begoña Ezquieta
;
Atocha Romero
, et al.
소스
Medicina Clínica
. 153:293-297
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7 .
Author response for 'A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21-hydroxylase'
저자
by
Begoña Ezquieta
;
Josep Oriola
;
Maria Arriba
.
소스
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5 .
Recomendaciones para el diagnóstico y tratamiento de pacientes con formas clásicas de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa
저자
by
José Igancio Labarta
;
Begoña Ezquieta
;
Aranzazu Escribano
;
Maria Clemente
;
Amaia Rodriguez
, et al.
소스
Anales de Pediatría, Vol 87, Iss 2, Pp 116.e1-116.e10 (2017)
Full Text (ScienceDirect)
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7 .
Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes
저자
by
Isabel Pinto
;
Teresa Vendrell
;
Antonio González-Meneses
;
Atilano Carcavilla
;
Yoko Aoki
, et al.
소스
Medicina Clínica
. 144:67-72
Web of Science
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7 .
LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy
저자
by
Encarna Guillén-Navarro
;
Begoña Ezquieta
;
Jaime Sánchez-Pozo
;
Pablo Lapunzina
;
Isabel Pinto
, et al.
소스
Revista Española de Cardiología (English Edition)
. 66:350-356
Full Text (Clinical Key)
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