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port-of-the-consensus-statement-to-the-wide-syndromic-spectrum/2024-01-25T00:00:00+00:00https://biogen.enfermedadesraras.es/inherited-bone-marrow-failure-syndromes-phenotype-as-a-tool-for-early-diagnostic-suspicion-at-a-major-reference-center-in-mexico/2024-02-07T23:53:33+00:00https://biogen.enfermedadesraras.es/the-value-of-genome-wide-analysis-in-craniosynostosis/2024-01-22T00:00:00+00:00https://biogen.enfermedadesraras.es/real-world-outcomes-from-a-series-of-patients-with-late-onset-pompe-disease-who-switched-from-alglucosidase-alfa-to-avalglucosidase-alfa/2024-01-19T00:00:00+00:00https://biogen.enfermedadesraras.es/publics-knowledge-of-attitude-to-and-motivation-towards-health-related-genomics-a-scoping-review/2024-02-06T23:00:00+00:00https://biogen.enfermedadesraras.es/mutations-of-gemin5-are-associated-with-coenzyme-qsub10-sub-deficiency-long-term-follow-up-after-treatment/2024-02-12T18:27:22+00:00https://biogen.enfermedadesraras.es/bi-allelic-iprrt2-i-variants-may-predispose-to-self-limited-familial-infantile-epilepsy/2024-02-14T02:17:12+00:00https://biogen.enfermedadesraras.es/2023-in-the-european-journal-of-human-genetics/2024-02-05T23:00:00+00:00https://biogen.enfermedadesraras.es/using-exomes-better/2024-02-12T18:28:36+00:00https://biogen.enfermedadesraras.es/patients-perceptions-and-practices-of-informing-relatives-a-qualitative-study-within-a-randomised-trial-on-healthcare-assisted-risk-disclosure/2024-02-02T22:00:00+00:00https://biogen.enfermedadesraras.es/the-value-of-genomic-testing-in-severe-childhood-speech-disorders/2024-02-12T18:29:11+00:00https://biogen.enfermedadesraras.es/diagnostic-uplift-through-the-implementation-of-short-tandem-repeat-analysis-using-exome-sequencing/2024-02-02T22:00:00+00:00https://biogen.enfermedadesraras.es/improved-sensitivity-for-detection-of-pathogenic-variants-in-familial-nf2-related-schwannomatosis/2024-02-01T17:00:15+00:00https://biogen.enfermedadesraras.es/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort/2024-01-31T16:56:35+00:00https://biogen.enfermedadesraras.es/znf142-mutation-causes-sex-dependent-neurologic-disorder/2024-02-07T23:32:17+00:00https://biogen.enfermedadesraras.es/btb-domain-mutations-perturbing-kctd15-oligomerisation-cause-a-distinctive-frontonasal-dysplasia-syndrome/2024-01-31T16:56:35+00:00https://biogen.enfermedadesraras.es/heterozygous-deletion-of-hoxc10-hoxc9-causes-lower-limb-abnormalities-in-congenital-vertical-talus/2024-01-31T16:56:35+00:00https://biogen.enfermedadesraras.es/variant-reclassification-and-clinical-implications/2024-02-07T23:32:56+00:00https://biogen.enfermedadesraras.es/childhood-onset-hypertrophic-cardiomyopathy-caused-by-thin-filament-sarcomeric-variants/2024-02-07T23:35:29+00:00https://biogen.enfermedadesraras.es/mosaic-rasopathies-concept-different-skin-lesions-same-systemic-manifestations/2024-02-07T23:36:12+00:00https://biogen.enfermedadesraras.es/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals/2024-01-30T17:00:18+00:00https://biogen.enfermedadesraras.es/homozygous-smad6-variants-in-two-unrelated-patients-with-craniosynostosis-and-radioulnar-synostosis/2024-01-30T17:00:17+00:00https://biogen.enfermedadesraras.es/genotype-and-phenotype-correlation-of-phactr1-related-neurological-disorders/2024-02-07T23:37:47+00:00https://biogen.enfermedadesraras.es/de-novo-heterozygous-missense-variants-in-celsr1-as-cause-of-fetal-pleural-effusions-and-progressive-fetal-hydrops/2024-01-25T16:56:51+00:00https://biogen.enfermedadesraras.es/whole-exome-sequencing-reveals-causative-genetic-variants-for-several-overgrowth-syndromes-in-molecularly-negative-beckwith-wiedemann-spectrum/2024-02-07T23:54:59+00:00https://biogen.enfermedadesraras.es/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort/2024-01-16T17:00:14+00:00https://biogen.enfermedadesraras.es/new-sex-specific-genetic-variants-for-chronic-kidney-disease-identified/2024-02-07T22:59:07+00:00https://biogen.enfermedadesraras.es/epigenetic-causes-of-overgrowth-syndromes/2024-02-07T23:04:33+00:00https://biogen.enfermedadesraras.es/researchers-discover-inherited-genetic-mutations-can-predict-interval-breast-cancer/2024-02-07T23:37:21+00:00https://biogen.enfermedadesraras.es/cyp2a6-associates-with-respiratory-disease-risk-and-younger-age-of-diagnosis-a-phenome-wide-association-mendelian-randomization-study/2024-02-07T23:12:23+00:00https://biogen.enfermedadesraras.es/test-y-asesoramiento-genetico-armas-para-cancer-de-mama-hereditario/2024-02-08T00:09:20+00:00https://biogen.enfermedadesraras.es/spectrum-of-genetic-variants-in-bilateral-sensorineural-hearing-loss/2024-02-14T02:17:30+00:00https://biogen.enfermedadesraras.es/novel-foxl2-variants-in-two-chinese-families-with-blepharophimosis-ptosis-and-epicanthus-inversus-syndrome/2024-02-12T00:00:00+00:00https://biogen.enfermedadesrar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