Search
for

    Sort by

    Research 91–120 of 1000+

    1. Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies 2021 · 9 citations
    2. Autosomal recessive hereditary hypotrichosis simplex: A case report JAAD Case Reports · 2024
    3. Research Snippets British Journal of Dermatology · 2005
    4. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    5. 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy Journal of Investigative Dermatology · 2019
    6. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    7. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    8. 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin 2019
    9. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    10. Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation] The Mouseion at the JAXlibrary (Jackson Laboratory) · 2000
    11. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    12. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome Case reports in genetics · 2015 · 7 citations
    13. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    14. Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes 2011
    15. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    16. Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11 Mammalian Genome · 2000 · 7 citations
    17. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    18. 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa Journal of Investigative Dermatology · 2019
    19. An in vivo method for the detection of somatic mutations at the cellular level in mice 1982 · 11 citations
    20. <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients Clinical genetics · 2010 · 43 citations
    21. Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020 · 3 citations
    22. 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa Journal of Investigative Dermatology · 2022
    23. Management of pregnancy in a carrier of the Donohue mutation Prenatal Diagnosis · 2009
    24. KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA Media Dermato Venereologica Indonesiana · 2023
    25. Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother SAGE Open Medical Case Reports · 2024
    26. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    27. Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation The Journal of Dermatology · 1995 · 28 citations
    28. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families The Journal of Dermatology · 2011 · 11 citations
    29. Hague (<i>Hag</i>): A New Mouse Hair Mutation With an Unstable Semidominant Allele Genetics · 2002 · 11 citations
    30. A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome Journal of The European Academy of Dermatology and Venereology · 2009 · 8 citations