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Journal of Clinical Lipidology|December 2, 2021
Novel APOB mutation in familial hypobetalipoproteinemiaM Domenech, Isabel Llano-Rivas, Vicente Arroyo, et al.
Frontiers in Pediatrics|February 21, 2022
RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos SyndromeOlatz Villate, Hiart Maortua, María-Isabel Tejada, et al.
Archivos Argentinos De Pediatria|March 6, 2010
[CHARGE syndrome]Carlos Javier Lobete Prieto, Isabel Llano Rivas, Joaquín Fernández Toral, et al.
Frontiers in Genetics|October 19, 2023
Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, et al.
Pediatric Dermatology|October 15, 2011
A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndromeLorena Miñones-Suárez, Alberto Mas-Vidal, Joaquin Fernandez-Toral, et al.
Genes|December 9, 2020
Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome SuspicionYerai Vado, Arrate Pereda, Isabel Llano-Rivas, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in malesElena Parrini, Isabel Llano Rivas, Joaquin Fernandez Toral, et al.
Birth Defects Research|September 22, 2020
Prenatal and foetal autopsy findings in glutaric aciduria type IIAdriano Martinez-Aracil, Rebeca Ruiz-Onandi, Alvaro Perez-Rodriguez, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to dateMaría Luisa Martínez-Fernández, Joaquin Fernández-Toral, Isabel Llano-Rivas, et al.
BMC Medical Genomics|December 28, 2018
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case reportYerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, et al.
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