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Research 331–360 of 1000+
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
- Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
- Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Isochromosome Mosaic Turner Syndrome: A Case Report
- Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
- Forensic approach in cases of anabolic-androgenic steroid abuse and cardiovascular mortality: insights from autopsy, histopathology, immunohistochemistry and toxicology
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- 69-Year-Old Man With Nasal Congestion and Pre-Syncope
- Proliferative diabetic retinopathy as onset of type 1 diabetes
- Systemic Lupus Erythematosus: What Every Clinician Needs to Know
- Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
- Selected abstracts from the 47th meeting of the Irish Endocrine Society Sligo, 24th & 25th November 2023
- E-Poster
- Biomedical engineering approaches for the delivery of JAGGED1 as a potential tissue regenerative therapy
- Bachmann–Bupp syndrome and treatment
- Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche
- A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
- TONGUE, RED
- Trichoscopy in genetic hair shaft abnormalities
- Specific morphogenetic events in mouse external genitalia sex differentiation are responsive/dependent upon androgens and/or estrogens
- The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of <i>HOXC10</i>
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- Identification of key genes and signaling pathways related to Hetian sheep wool density by RNA-seq technology
- The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
- Ear pinna growth and differentiation is conserved in murids and requires BMP signaling for chondrocyte proliferation
- Parry–Romberg Syndrome: Radioclinical Dissociation in a Paucisymptomatic Form and a Proposed Diagnostic Framework
- Female Pattern Hair Loss: An Overview with Focus on the Genetics
- Exogenous Testosterone (T) Alone or with Finasteride Increases Physical Performance, Grip Strength, and Lean Body Mass in Older Men with Low Serum T