Search
for
Sort by
Research 301–330 of 1000+
- The <i>hairless</i> gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
- Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up
- Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
- Acne in Dark Skin
- The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
- Hairless is a nuclear receptor corepressor essential for skin function
- Le gène<i>hairless</i>de la souris
- A Practical Approach to the Diagnosis and Management of Hair Loss in Children and Adolescents
- What does acne genetics teach us about disease pathogenesis?
- Polycystic ovary syndrome and the differential diagnosis of hyperandrogenism
- Hair follicles and their role in skin health
- Adrenal causes of endocrine hypertension in childhood or adolescence
- Genetic Defects of Female Sexual Differentiation
- Modelling androgen synthesis and action during human sexual differentiation
- Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
- Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
- Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
- Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
- Congenital atrichia associated with situs inversus and mesocardia
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
- 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Congenital Adrenal Hyperplasia