Search
for
Sort by
Research 31–60 of 273
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
- A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
- 870 Y27632 promotes proliferation via EGFR signaling in a newly isolated and characterized human primary sebocyte cell line
- Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
- Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
- Adult Patients with Aphallia: Were they Fertile?
- Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
- Pellagroid dermatitis during a ketogenic diet and anti-epileptic therapy.
- Reprogramming of Human Hair Follicle Dermal Papilla Cells into Induced Pluripotent Stem Cells
- Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing.
- 5-Alpha-reductase deficiency in a Saudi "girl"
- Transsexualism
- Generation of an integration-free human induced pluripotent stem cell line MUSIi010-A from occipital scalp fibroblasts of a male patient with androgenetic alopecia
- 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
- An Update of Congenital Adrenal Hyperplasia
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- MENSTRUAL DISORDERS IN ADOLESCENTS
- Regeneration of skin appendages and nerves: current status and further challenges
- Physiology of the Hypothalamic Pituitary Gonadal Axis in the Male
- Induced Pluripotent Stem Cells from Human Hair Follicle Mesenchymal Stem Cells
- Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor
- Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
- Mitoxantrone
- TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
- One of These Things Is Not Like the Others: The Idea of Precedence in Health Technology Assessment and Coverage Decisions
- Sexuality in premature ovarian insufficiency
- Skin manifestations among<i>GATA2</i>-deficient patients
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles