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Research 721–750 of 1000+
- A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique
- A new type of pachyonychia congenita.
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
- KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
- Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma
- Pachyonychia congenita: Sporadic onset with mutation analysis
- Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
- A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
- Hypotrichosis congenita of Marie Unna
- Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
- Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis
- Non-classic congenital adrenal hyperplasia
- Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
- Treatment of unilateral congenital ptosis
- Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach
- Ulerythema ophryogenes with multiple congenital anomalies
- Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
- A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
- The Effect of Simvastatin on Plasma Steroid Hormone Levels in Metformin-Treated Women with Non-Classic Congenital Adrenal Hyperplasia
- A newborn presenting with congenital blistering
- Plasma levels of C19 steroid glucuronides in pre-menopausal women with non-classical congenital adrenal hyperplasia
- Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment
- Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study