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Research 241–270 of 1000+
- DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
- Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
- Progress and prospects: gene therapy for performance and appearance enhancement
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- Complex X chromosome rearrangement associated with multiorgan autoimmunity
- Dermatological concerns for women and girls with turner syndrome
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
- Trichothiodystrophy without associated neuroectodermal features in two siblings
- Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
- GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
- Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1
- Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
- Early Onset Werner Syndrome
- A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
- Structural and Molecular Hair Abnormalities in Trichothiodystrophy
- New clinico‐genetic classification of trichothiodystrophy
- Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
- Genetic hair and nail disorders
- Turner's syndrome associated with psoriasis and alopecia areata
- Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- Zinc Oxide Nanoparticles Fortified Biscuits as a Nutritional Supplement for Zinc Deficient Rats
- New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
- Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
- Two Cases of Hypertrichosis Cubiti
- JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease