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Research 31–60 of 1000+
- Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- The Relation of the SHBG Gene Polymorphism (rs1799941) with PCOS in a Group of Iraqi Women
- Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
- A Small Molecule Inhibitor Partitions Two Distinct Pathways for Trafficking of Tonoplast Intrinsic Proteins in Arabidopsis
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
- The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Kin‐cohort analysis of <i>LRRK2</i>‐G2019S penetrance in Parkinson's disease
- A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
- Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
- Biotinidase deficiency characterized by skin and hair findings
- A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
- Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
- Congenital Adrenal Hyperplasia