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Research 241–270 of 1000+
- Localized variant of junctional epidermolysis bullosa with R795X mutation
- Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
- 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
- A Theoretical Model for the Treatment of Androgenetic Alopecia Using the STEAP3 Protein, and the Genetic Challenges of Treating AGA
- Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- A Small Deletion Hotspot in the Type II Keratin Gene<i>mK6irs1/Krt2-6g</i>on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (<i>Ca</i>) Mutation
- Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
- Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Birt-Hogg-Dube Syndrome with a Novel Mutation in the <i>FLCN</i> Gene
- Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice
- The molecular pathogenesis of Trichilemmal carcinoma
- A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
- The Molecular Pathogenesis of Trichilemmal Carcinoma
- The Molecular Pathogenesis of Trichilemmal Carcinoma
- A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
- The mouse frizzy (<i>fr</i>) and rat ‘hairless’ (<i>fr</i><sup><i>CR</i></sup>) mutations are natural variants of protease serine S1 family member 8 (<i>Prss8</i>)
- Skin precancer.
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- 40 PRLR and PCCA variants associated with hair length in Brangus heifers
- Characterization of an autoimmune condition associated with AEC syndrome
- The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
- The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
- Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
- <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome