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Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy
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DNA vaccines as promising immuno-therapeutics against cancer: a new insight
Published 2025-01-01Get full text
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Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum
Published 2019-04-01“… <br> <sup>1</sup>Research Center of Medical Genetics. 1, Moskvorechie str., Moscow, 115522, Russian Federation.…”
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Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
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Food Processing and Maillard Reaction Products: Effect on Human Health and Nutrition
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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
Published 2025-01-01“…Genetic variants were classified according to the American College of Medical Genetics and Genomics; only likely pathogenic or pathogenic variants were considered relevant for solved cases. …”
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Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency
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Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases
Published 2013-01-01“…The identification of genetic variants that are responsible for human inherited diseases is a fundamental problem in human and medical genetics. As a typical type of genetic variation, nonsynonymous single-nucleotide polymorphisms (nsSNPs) occurring in protein coding regions may alter the encoded amino acid, potentially affect protein structure and function, and further result in human inherited diseases. …”
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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression
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Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding
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Surgical treatment of uterine inflammatory myofibroblastic tumor with local invasion: A case report
Published 2025-02-01Get full text
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