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1 . Academic Journal
Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
저자
by
Aguilera, Cinthia
;
Esteve-Garcia, Anna
;
Casasnovas, Carlos
;
Vélez-Santamaria, Valentina
;
Rausell, Laura
, et al.
소스
BMC Medical Genomics
. 12/1/2023, Vol. 16 Issue 1, p1-6. 6p.
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.
저자
by
Rodríguez-López, Raquel
;
García-Planells, Javier
;
Martínez-Matilla, Marina
;
Pérez-García, Cristian
;
García Banacloy, Amor
, et al.
소스
Life (2075-1729)
. Jul2022, Vol. 12 Issue 7, p1035-1035. 12p.
Web of Science
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7 . Academic Journal
Cribado y diagnóstico prenatal de anomalías genéticas: recomendaciones de consenso SEGO, SEQCML, AEDP
저자
by
Prieto-García, Belén
;
Adiego, Begoña
;
Suela, Javier
;
Martín, Inmaculada
;
Santacruz, Belén
, et al.
소스
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio
. 1(3)
Web of Science
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7 . Academic Journal
Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations
저자
by
Prieto, Belén
;
Adiego, Begoña
;
Suela, Javier
;
Martín, Inmaculada
;
Santacruz, Belén
, et al.
소스
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio
. 1(3)
Web of Science
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7 . Academic Journal
A Multiomics Study To Unravel the Effects of Developmental Exposure to Endosulfan in Rats: Molecular Explanation for Sex-Dependent Effects.
저자
by
Tarazona, Sonia
;
Bernabeu, Elena
;
Carmona, Héctor
;
Gómez-Giménez, Belén
;
García-Planells, Javier
, et al.
소스
ACS Chemical Neuroscience; Oct2019, Vol. 10 Issue 10, p4264-4279, 16p
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7 . Editorial & Opinion
BRCA, breast cancer and in vitro fertilization: How should we advise our patients?
저자
by
García-Planells, Javier
;
Francés, Blanca Simón
;
Diez-Juan, Antonio
.
소스
In
Fertility and Sterility
August 2021 116(2):359-360
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5 . Academic Journal
Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms.
저자
by
Valero-Garcia, Jennifer
;
González-Espinosa, María del Carmen
;
Barrios, Manuel
;
Carmona-Antoñanzas, Greta
;
García-Planells, Javier
, et al.
소스
PLoS ONE
. 2/25/2019, Vol. 14 Issue 2, p1-12. 12p.
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7 . Academic Journal
The Reproductive Journey in the Genomic Era: From Preconception to Childhood
저자
by
Garcia-Herrero, Sandra
;
Simon, Blanca
;
Garcia-Planells, Javier
.
소스
GENES
; DEC 2020, 11 12, p1521 12p.
Scopus
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5 . Academic Journal
A novel SDHD mutation associated with neck paraganglioma.
저자
by
Reboll, Rosa
;
Martínez-Leon, Juan
;
Zapater, Enrique
;
Juez, Marina
;
Garcia-Planells, Javier
, et al.
소스
Acta Oto-Laryngologica
(ACTA OTOLARYNGOL), Oct2011; 131(10): 1110-1116. (7p)
EBSCOHost PDF
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7 . Academic Journal
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
저자
by
Hoogeveen-Westerveld, Marianne
;
Wentink, Marjolein
;
van den Heuvel, Diana
;
Mozaffari, Melika
;
Ekong, Rosemary
, et al.
소스
Human Mutation
. Apr 01, 2011 32(4):424-435
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