27 results on '"Quesada‐Espinosa, Juan Francisco"'
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2. Diagnostic yield of genetic testing in adults with sensorineural hearing loss
3. Diagnóstico genético de la hipoacusia neurosensorial infantil
4. Genetic diagnosis of childhood sensorineural hearing loss
5. Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling
6. Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.
7. Rendimiento diagnóstico del estudio genético en adultos con hipoacusia neurosensorial
8. Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
9. New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in theRFC1gene
10. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families
11. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review
12. Adult‐onset nemaline myopathy due to a novel homozygous variant in theTNNT1gene
13. Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review
14. Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings
15. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
16. New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
17. Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene
18. Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
19. Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia
20. Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
21. Prioritization of exome variants through an automatic system using HPO terms
22. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection
23. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
24. PIK3CA‐assoziiertes Überwuchsspektrum: gleichzeitiges Auftreten mehrerer Anomalien bei einem Patienten
25. PIK3CA‐related overgrowth spectrum: concurrence of multiple anomalies in one patient
26. PIK3CA-related overgrowth spectrum: concurrence of multiple anomalies in one patient.
27. PIK3CA-assoziiertes Überwuchsspektrum: gleichzeitiges Auftreten mehrerer Anomalien bei einem Patienten.
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