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1 . Academic Journal
Prenatal genetic diagnosis of monogenic diseases
저자
by
Prior-de Castro, Carmen
;
Gómez-González, Clara
;
Rodríguez-López, Raquel
;
Macher, Hada C.
.
소스
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio
. 4(1):28-39
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6 . Academic Journal
Diagnóstico genético prenatal de enfermedades monogénicas
저자
by
Prior-de Castro, Carmen
;
Gómez-González, Clara
;
Rodríguez-López, Raquel
;
Macher, Hada C.
.
소스
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio
. 4(1):40-51
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6 . Academic Journal
Hepatitis
C
Virus Clearance by Direct-Acting Antivirals Agents Improves Endothelial Dysfunction and Subclinical Atherosclerosis: HEPCAR Study
저자
by
Muñoz-Hernández, Rocío
;
Ampuero, Javier
;
Millán, Raquel
;
Gil-Gómez, Antonio
;
Rojas, Ángela
, et al.
소스
Clinical and Translational Gastroenterology
. Aug 01, 2020 11(8):e00203-e00203
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7 . Academic Journal
Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene
저자
by
Lepe-Balsalobre, Esperanza
;
Santotoribio, José D.
;
Nuñez-Vazquez, Ramiro
;
García-Morillo, Salvador
;
Jiménez-Arriscado, Pilar
, et al.
소스
Clinical Chemistry and Laboratory Medicine (CCLM)
. 58(12):2017-2024
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7 . Academic Journal
Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants
저자
by
Paula Hernández-Arévalo
;
José D. Santotoribio
;
Rocío Delarosa-Rodríguez
;
Antonio González-Meneses
;
Salvador García-Morillo
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
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7 . Academic Journal
Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosa
저자
by
José D. Santotoribio
;
Esperanza Lepe-Balsalobre
;
Irene Alonso-Pérez
;
Andrea Campo-Barasoain
;
Hada C. Macher
.
소스
Anales de Pediatría (English Edition), Vol 95, Iss 2, Pp 116-118 (2021)
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7 . Academic Journal
Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants
저자
by
Hernández-Arévalo, Paula
;
Santotoribio, José D.
;
Delarosa-Rodríguez, Rocío
;
González-Meneses, Antonio
;
García-Morillo, Salvador
, et al.
소스
Orphanet Journal of Rare Diseases
. 16(1)
Open Access (BioMed Central)
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7 . Academic Journal
Donor-Specific Cell-Free DNA qPCR Quantification as a Noninvasive Accurate Biomarker for Early Rejection Detection in Liver Transplantation
저자
by
Noelia García-Fernández
;
Hada C. Macher
;
Gonzalo Suárez-Artacho
;
Miguel Ángel Gómez-Bravo
;
Patrocinio Molinero
, et al.
소스
Journal of Clinical Medicine, Vol 12, Iss 1, p 36 (2022)
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7 . Academic Journal
Circulating Tumor Cells Enumeration from the Portal Vein for Risk Stratification in Early Pancreatic Cancer Patients
저자
by
Javier Padillo-Ruiz
;
Gonzalo Suarez
;
Sheila Pereira
;
Francisco José Calero-Castro
;
Jose Tinoco
, et al.
소스
Cancers, Vol 13, Iss 24, p 6153 (2021)
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7 . Academic Journal
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report
저자
by
Ley-Martos, Myriam
;
Guerrero, Juan M.
;
Lucas-Javato, Marta
;
Remón-García, Cristina
;
García-Lozano, J. Raúl
, et al.
소스
Medicine
. Oct 01, 2018 97(42):e12872-e12872
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