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Research 601–630 of 1000+
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function <i>VDR</i> mutation
- Hypotrichosis with juvenile macular dystrophy
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
- Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
- Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report
- A Theoretical Model for the Treatment of Androgenetic Alopecia Using the STEAP3 Protein, and the Genetic Challenges of Treating AGA
- Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
- Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
- Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
- Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
- Painful thickened skin on the soles of the feet
- A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
- Papular atrichia
- SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
- Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
- 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
- Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
- A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
- Regulation of a hair follicle keratin intermediate filament gene promoter
- Congenital atrichia with papular lesions
- Studying Cytotoxic T-lymphocyte- Associated Antigen-4 (CTLA-4) gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome
- STAT3 Inhibits Cell Proliferation at Least in Part Via Directly Negatively Regulating FST Gene Expression
- Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
- Congenital Atrichia: A Case Report
- Keratin disorders: from gene to therapy
- Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
- A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome