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Research 241–270 of 1000+
- Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
- Dermatological diseases from a genetic perspective
- 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
- The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
- Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
- The genetics of hair shaft disorders
- A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
- Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
- Modeling animal genomics in mice: An authentic approach for the functional interrogation of evolutionarily and agriculturally critical variants
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
- Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
- Molecular epidemiology of hypospadias: Review of genetic and environmental risk factors
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- A Clinical Genetics-Driven Dual Diagnosis of Prader–Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL
- Clinical and genetic predictors of persistent chemotherapy-induced alopecia despite scalp cooling in breast cancer
- https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
- Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
- A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
- Azathioprine‐induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with <i>NUDT15</i> minor variant: A case report
- Polycystic ovary syndrome is linked with the fat mass obesity (FTO) gene variants rs17817449 and rs1421085 in western Saudi Arabia
- A young male with kidney damage from genetic mitochondrial disease: case report and literature review
- An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
- Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
- PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in <i>ACTB</i>
- Two siblings with uncombable hair syndrome: A new pathogenic variant
- <i>IGF2BP2</i> and <i>IGFBP3</i> Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome
- Beyond Appearances: The Hidden Coat Diversity of the Sicilian Mastiff Revealed by Integrated Phenotypic and Genetic Analyses
- Effect of PTPN22, FAS/FASL, IL2RA and CTLA4 genetic polymorphisms on the risk of developing alopecia areata: A systematic review of the literature and meta-analysis