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Research 211–240 of 1000+
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- Alopecia: Association with Resistance to Thyroid Hormones
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
- Site of beige (<i>bg</i>) and leaden (<i>ln</i>) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (<i>W</i><sup><i>sh</i></sup>) homozygotes
- Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
- A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
- Clinical Impact of Molecular Diagnostics in Endocrinology
- An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
- Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
- Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
- Molecular basis of hypohidrotic ectodermal dysplasia: an update
- Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
- Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
- Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction
- Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>)
- Progeroide Syndrome
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
- A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
- A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
- Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia