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Research 511–540 of 1000+
- A Case Report of Werner’s Syndrome With a Novel Mutation From India
- Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
- Uncombable hair in a case of Zellweger syndrome – A new association
- 301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa
- 9. Immunology and Genetics
- Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
- The Effect of Platelet Rich Plasma on Wound Healing in the Repair of Experimental Penile Fractures
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- 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
- 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
- Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development
- 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
- 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
- IL-17 axis is a significant driver of skin inflammation in Card14 mutant pityriasis rubra pilaris model mice
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- Persistent Hypoglycemia and Macrosomia in a Newborn
- <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
- Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression
- Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
- A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification