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Research 91–120 of 1000+
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- A case of congenital pili multigemini
- Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
- [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme].
- Puberty induction with recombinant gonadotropin: What impact on future fertility?
- An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
- Human ClinicalPhenotype Associated with FOXN1 Mutations
- Nevus psiloliparus: Newly described histopathological features from transverse sections
- Voice changes in reproductive disorders, thyroid disorders and diabetes: a review
- Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
- FOXN1 deficient nude severe combined immunodeficiency
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Mammalian-specific ectodermal enhancers control the expression of <i>Hoxc</i> genes in developing nails and hair follicles
- Testicular Steroidogenesis
- New clinico‐genetic classification of trichothiodystrophy
- Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis
- Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
- Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
- A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue
- Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
- Commonly associated disorders with complete scalp alopecia in early childhood: A review