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Research 151–180 of 1000+
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
- Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
- A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
- Evaluation of quality of life scores and family impact scales in pediatric patients with alopecia areata: a cross‐sectional cohort study
- Performance Evaluation of the Generative Pre-trained Transformer (GPT-4) on the Family Medicine In-Training Examination
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
- Function and interactions of the Ysc84/SH3yl1 family of actin- and lipid-binding proteins
- Masquerading of trichotillomania in a family with monilethrix
- Hair Whorls in the Dog (<i>Canis familiaris</i>). I. Distribution
- Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
- Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
- Characterisation of Three Ovine KRTAP13 Family Genes and Their Association with Wool Traits in Chinese Tan Sheep
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in <i> KRT 5 </i>
- Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
- Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
- Alopecia in preexisting autoimmune thyroid disease in family medicine practice: can hyperprolactinemia induce hair loss? A case report
- Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
- Enterococcus faecium secreted the NlpC/P60 family protein to enhance host immunity and indirectly increases Akkermansia muciniphila for slowing aging
- Detection of a Second KAP22 Family Member in Sheep and Analysis of Its Genetic Variation and Associations with Selected Wool Fibre Traits
- Genetics of infertility and “assisted fertilization” in the Bible: The case of Abraham and his family
- A different approach to PCOS: evaluation of spermiogram results in male patients with a family history of PCOS
- Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl
- A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa
- Spatiotemporal Expression Characterization of KRTAP6 Family Genes and Its Effect on Wool Traits
- Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation