Search
for

    Sort by

    Research 30 of 1000+

    1. Complex X chromosome rearrangement associated with multiorgan autoimmunity Molecular cytogenetics · 2015 · 8 citations
    2. DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA Balkan Journal of Medical Genetics · 2013 · 3 citations
    3. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice 2008 · 60 citations
    4. Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay American Journal of Medical Genetics Part A · 2003 · 5 citations
    5. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    6. Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome Journal of dermatology · 2014 · 15 citations
    7. Prediction of male-pattern baldness from genotypes European Journal of Human Genetics · 2015 · 37 citations
    8. Sperm aneuploidy in infertile male patients: a systematic review of the literature Andrologia · 2014 · 26 citations
    9. British Society for Dermatopathology British Journal of Dermatology · 2011
    10. Genome Report: chromosome-scale genome assembly of the African spiny mouse (<i>Acomys cahirinus</i>) G3 Genes Genomes Genetics · 2023 · 5 citations
    11. Krtap16, Characterization of a New Hair Keratin-associated Protein (KAP) Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13 Journal of Biological Chemistry · 2004 · 47 citations
    12. The Complexity of the Ovine and Caprine Keratin-Associated Protein Genes International journal of molecular sciences · 2021 · 10 citations
    13. Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors Frontiers in Veterinary Science · 2022 · 2 citations
    14. The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered <i>Hoxc</i> gene expression in the ears Veterinary Dermatology · 2008 · 10 citations
    15. The Hairless Phenotype of the Hirosaki Hairless Rat Is Due to the Deletion of an 80-kb Genomic DNA Containing Five Basic Keratin Genes Journal of Biological Chemistry · 2008 · 35 citations
    16. Biological Function of Long Non-coding RNA (LncRNA) Xist Frontiers in Cell and Developmental Biology · 2021 · 247 citations
    17. Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes European journal of medical genetics · 2012 · 13 citations
    18. BIPHENOTYPIC LEUKAEMIA The Lancet · 1983 · 1 citations
    19. ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE Zenodo (CERN European Organization for Nuclear Research) · 2020
    20. Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response Molecular cytogenetics · 2014 · 5 citations
    21. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    22. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    23. Decision letter: Live imaging reveals chromatin compaction transitions and dynamic transcriptional bursting during stem cell differentiation in vivo 2022
    24. Cutaneous signals of immune system disease Current problems in dermatology · 1991
    25. Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex Journal of Investigative Dermatology · 2005 · 77 citations
    26. Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development Biology Direct · 2016 · 19 citations
    27. Genome-Wide Association Study of Fiber Diameter in Alpacas Animals · 2023 · 1 citations
    28. Comparison of allogeneic stem cell transplant conditioning regimens in AML, MDS and CLL General internal medicine and clinical innovations · 2018
    29. Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease Stem cell biology and regenerative medicine · 2018
    30. Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis Bioinformation · 2012 · 3 citations