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Differential Signature of the Centrosomal MARK4 Isoforms in Glioma
Published 2011-01-01Get full text
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CLN6‐related continuum phenotype caused by aberrant splicing
Published 2025-02-01Get full text
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Molecular basis and genetics of hypohidrotic ectodermal dysplasias
Published 2023-11-01Get full text
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A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
Published 2014-01-01Get full text
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Studying the Humoral Response against SARS-CoV-2 in Cuban COVID-19 Recovered Patients
Published 2024-01-01Get full text
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Estimating the impact of the Mongol expansion upon the gene pool of Tuvans
Published 2018-08-01Get full text
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Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
Published 2024-03-01“…In general, the study widened the mutation spectrum of the gene, allowing to carry out medical genetic counseling and to answer the questions about the hearing impairment prognosis for future generations.…”
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Empowerment in Adolescent Patients with a Disability/Chronic Condition: A Scoping Review
Published 2024-12-01Get full text
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The technology landscape for detection of DNA methylation in cancer liquid biopsies
Published 2025-12-01Get full text
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Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients
Published 2022-06-01“…In addition, 25 HCS-related genes were sequenced using a multigene panel, and variations were classified according to the American College of Medical Genetics and Genomics (ACMG) criteria. In total, 218 HCS patients predominantly with breast, colorectal, ovarian, gastric, and endometrium cancers were included. …”
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