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1 . Academic Journal
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice
저자
by
María Juliana Ballesta-Martínez
;
Virginia Pérez-Fernández
;
Vanesa López-González
;
María José Sánchez-Soler
;
Ana Teresa Serrano-Antón
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
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7 . Academic Journal
Riesgo de malformaciones mayores y menores en niños concebidos por técnicas de reproducción asistida (FIV/ICSI): estudio prospectivo de cohorte controlado
저자
by
María José Sánchez Soler
;
Vanesa López-González
;
María Juliana Ballesta-Martínez
;
Jorge Gálvez-Pradillo
;
María Nicolás-Arnao
, et al.
소스
Anales de Pediatría, Vol 95, Iss 6, Pp 448-458 (2021)
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7 . Academic Journal
Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study
저자
by
María José Sánchez Soler
;
Vanesa López-González
;
María Juliana Ballesta-Martínez
;
Jorge Gálvez-Pradillo
;
María Nicolás-Arnao
, et al.
소스
Anales de Pediatría (English Edition), Vol 95, Iss 6, Pp 448-458 (2021)
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7 . Academic Journal
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
저자
by
Pilar Quijada-Fraile
;
Elena Arranz Canales
;
Elena Martín-Hernández
;
María Juliana Ballesta-Martínez
;
Encarna Guillén-Navarro
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
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7 . Academic Journal
Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases
저자
by
María José Sánchez-Soler
;
Ana Teresa Serrano-Antón
;
Vanesa López-González
;
María Juliana Ballesta-Martínez
;
Encarna Guillén-Navarro
.
소스
Anales de Pediatría (English Edition), Vol 96, Iss 3, Pp 253-255 (2022)
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7 . Academic Journal
Expresividad extremadamente variable en el síndrome de Smith-Lemli-Opitz: revisión de 4 casos clínicos
저자
by
María José Sánchez-Soler
;
Ana Teresa Serrano-Antón
;
Vanesa López-González
;
María Juliana Ballesta-Martínez
;
Encarna Guillén-Navarro
.
소스
Anales de Pediatría, Vol 96, Iss 3, Pp 253-255 (2022)
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7 . Academic Journal
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
저자
by
Alejandro Parra
;
Rachel Rabin
;
John Pappas
;
Patricia Pascual
;
Mario Cazalla
, et al.
소스
Genes, Vol 14, Iss 6, p 1179 (2023)
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7 . Academic Journal
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients
저자
by
Juan Buendía-Martínez
;
María Barreda-Sánchez
;
Lidya Rodríguez-Peña
;
María Juliana Ballesta-Martínez
;
Vanesa López-González
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
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7 . Academic Journal
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene
저자
by
Guillermo Amate-García
;
María Juliana Ballesta-Martínez
;
Pablo Serrano-Lorenzo
;
Rocío Garrido-Moraga
;
Adrián González-Quintana
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1743 (2023)
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7 . Academic Journal
Evaluación del desarrollo psicomotor hasta los 3 años de edad de niños españoles concebidos por técnicas de reproducción asistida (FIV/ICSI): estudio prospectivo de cohorte controlado
저자
by
María José Sánchez-Soler
;
Vanesa López-González
;
María Juliana Ballesta-Martínez
;
Jorge Gálvez-Pradillo
;
Rosario Domingo-Martínez
, et al.
소스
Anales de Pediatría, Vol 92, Iss 4, Pp 200-207 (2020)
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