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Research 181–210 of 1000+
- Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
- Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
- Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor
- A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
- A Case Report of Werner’s Syndrome With a Novel Mutation From India
- The urine as a diagnostic key for a homozygous EGFR mutation
- Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
- Growth of the Mouse Coat VII. Hair Cycles and Sebaceous Glands in Homozygous and Heterozygous Naked Mice
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- Mutation in 5′ upstream region of <i>GCH</i> I gene causes familial dopa-responsive dystonia
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression
- Hidradenitis suppurativa and Mediterranean fever gene mutations
- Birt-Hogg-Dube Syndrome with a Novel Mutation in the <i>FLCN</i> Gene
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review
- Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
- APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis