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Causal Relationship Between Emotional Disorders and Thyroid Disorders: A Bidirectional Two‐Sample Mendelian Randomization Study
Published 2025-01-01“…We conducted a bidirectional two‐sample Mendelian randomization (MR) analysis to explore the genetic causal association between emotional disorders and thyroid disorders. …”
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Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
Published 2019-01-01Get full text
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64
Nanophthalmos: A Review of the Clinical Spectrum and Genetics
Published 2018-01-01“…Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.…”
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Neuromuscular diseases: genomics-driven advances
Published 2024-11-01Subjects: Get full text
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Pitfalls in Genetic Testing for Consanguineous Pediatric Populations
Published 2022-01-01“…She was found on whole exome sequencing (WES) to have dual genetic diagnoses. The first was a homozygous pathogenic HERC2 gene partial deletion of exons 43–45 that causes HERC2-related disorder. …”
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Finding Genetic Risk Factors of Gestational Diabetes
Published 2012-12-01“…Gestational diabetes mellitus (GDM) is a complex metabolic disorder of pregnancy that is suspected to have a strong genetic predisposition. …”
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Molecular basis and genetics of hypohidrotic ectodermal dysplasias
Published 2023-11-01“…The domain structures of the corresponding proteins are considered, as well as the molecular genetic pathways in which they are involved. Animal models for studying this disorder are also taken into consideration. …”
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The role of DNA methylation in the disorders of bone metabolism
Published 2019-02-01“…Expanding knowledge in the field of bone biology, especially in the genetics of osteoporosis and osteoimmunology, showed that osteoporosis is a disease that occurs not only due to hormonal or mechanical disorders, but also as a clinically and genetically heterogeneous disease, and there are still unknown pathogenetic links in its structure. …”
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Advances in Gene Therapy for Neurologic Disorders: An Overview
Published 2025-02-01“…Neurologic disorders most often occur due to inherent genetic mutations, which lead to numerous types of functional disruptions in nervous system development. …”
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Hepatobiliary Tract and Pancreatic Disorders in Celiac Disease
Published 1997-01-01“…Some disorders have shared immunological or genetic factors, including chronic hepatitis, primary biliary cirrhosis and sclerosing cholangitis. …”
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Clinical, genetic aspects and molecular pathogenesis of osteopetrosis
Published 2023-07-01“…Osteopetrosis (“marble bone”, ICD-10-78.2) includes a group of hereditary bone disorders distinguished by clinical variability and genetic heterogeneity. …”
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The genetics and hormonal basis of human gender identity
Published 2025-01-01“…The biological basis of gender identity cannot be modeled in animals and is best studied in people who identify with a gender that is different from the sex of their genitals such as transgender people and people with disorders/differences of sex development. Numerous research studies have delved into unraveling the intricate interplay of hormonal, neuroanatomic/neurofunctional, and genetic factors in the complex development of core gender identity. …”
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Molecular genetic methods for intestinal microbiome investigation
Published 2018-08-01“…To analyse existing molecular genetic methods for investigation of specific variety and the quantitative analysis of intestinal microbiome. …”
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Polycystic Ovary Syndrome May Be an Autoimmune Disorder
Published 2016-01-01“…Genetic and hormonal factors play crucial role in the pathogenesis of PCOS. …”
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Genetic Determinants of Osteoporosis: Common Bases to Cardiovascular Diseases?
Published 2010-01-01“…In the last decades the interest of the Scientific Community has been concentrated in the understanding the genetic bases of this disease but with controversial and/or inconclusive results. …”
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Genetic Basis of Sjögren's Syndrome. How Strong is the Evidence?
Published 2006-01-01“…Since there is no strong evidence for a specific genetic component in SS, a large international and collaborative study would be suitable to assess the genetics of this disorder.…”
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Challenges and considerations of genetic testing in von Willebrand disease
Published 2025-01-01“…von Willebrand disease (VWD) is the most common inherited bleeding disorder characterized by defects in the quantity or function of the von Willebrand factor (VWF). …”
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Drug delivery strategies to improve the treatment of corneal disorders
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Editorial: Multiomics approaches for understanding autism spectrum disorder
Published 2025-02-01Get full text
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