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Research 121–150 of 1000+
- Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
- A population pharmacokinetic model for individualized regimens of finasteride according to CYP3A5 genotype and liver function
- EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
- The expression of the gene <i>asebia</i> in the laboratory mouse: 3. Sebaceous glands
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development
- Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
- Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz<sup>ica</sup>) mice points to <i>fuzzy</i> as a key element of hair cycle control
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
- A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
- Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency
- A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- IL-17 axis is a significant driver of skin inflammation in Card14 mutant pityriasis rubra pilaris model mice
- SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Semidominant Inheritance in Epidermolytic Ichthyosis
- Persistent Hypoglycemia and Macrosomia in a Newborn
- A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
- <i>Hoxc13</i> mutant mice lack external hair
- Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
- GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which are Attenuated by Finasteride
- Genetic Ablation of the <i>CDP/Cux</i> Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
- Planar Cell Polarity Cadherin Celsr1 Regulates Skin Hair Patterning in the Mouse
- Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency