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Clinica Chimica Acta; International Journal of Clinical Chemistry|July 23, 2026
Pheochromocytoma as a manifestation of Neurofibromatosis type 1: Clinical presentation, diagnosis, and genetic analysisNeus Baena-Díez, Ruth Cano-Corres, Elisabet Castellanos, et al.
Cytogenetic and Genome Research|August 18, 2015
A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual DisabilityMaria A Rigola, Neus Baena, Vicenç Català, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
Turner syndrome: evaluation of prenatal diagnosis in 19 European registriesNeus Baena, C De Vigan, E Cariati, et al.
International Journal of Molecular Sciences|October 29, 2025
Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and ExpectationsAna Roche-Martínez, Ariadna Ramírez-Mallafré, Lorena Joga-Elvira, et al.
Biomed Research International|August 20, 2014
Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencingAnna Ruiz, Gemma Llort, Carmen Yagüe, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletionMarina Viñas-Jornet, Susanna Esteba-Castillo, Elisabeth Gabau, et al.
Clinical Epigenetics|May 7, 2024
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndromeNeus Baena, David Monk, Cinthia Aguilera, et al.
Frontiers in Endocrinology|October 9, 2023
Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohortIsabel Mazarico-Altisent, Ismael Capel, Neus Baena, et al.
BMC Medical Genetics|November 23, 2017
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literatureCinthia Aguilera, Marina Viñas-Jornet, Neus Baena, et al.
Molecular Genetics & Genomic Medicine|December 15, 2018
Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndromeCinthia Aguilera, Elisabeth Gabau, Steve Laurie, et al.
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