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Abraham Merino-López
Abraham Merino-López
Compound heterozygosity
Osteoporosis
Phenotype
Short stature
P4HB
2
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1
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0
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New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.
2021
Neuromuscular Disorders
María Elena Rodríguez-García
Francisco Javier Cotrina-Vinagre
Marcello Bellusci
Abraham Merino-López
Silvia Chumilla-Calzada
María Teresa García-Silva
Francisco Martínez-Azorín
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Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
2021
Molecular Genetics and Metabolism
Francisco Javier Cotrina-Vinagre
María Elena Rodríguez-García
Elena Martín-Hernández
Cristina Durán-Aparicio
Abraham Merino-López
Enrique Medina Benítez
Francisco Martínez-Azorín
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