Search
for

    Sort by

    Research 421–450 of 1000+

    1. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    2. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    3. The <i>hairless</i> gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor Genes & Development · 2001 · 178 citations
    4. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management Endocrine Reviews · 2021 · 157 citations
    5. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    6. Methimazole, Carbimazole, and Congenital Skin Defects Annals of Internal Medicine · 1987 · 132 citations
    7. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    8. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    9. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 2015 · 53 citations
    10. A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions Experimental Dermatology · 2000 · 47 citations
    11. Congenital ptosis: Long-term outcome of frontalis suspension using autogenous temporal fascia or fascia lata in children Journal of Plastic Reconstructive & Aesthetic Surgery · 2009 · 39 citations
    12. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999 · 37 citations
    13. An overview on congenital alopecia in domestic animals Veterinary dermatology · 2006 · 32 citations
    14. Congenital alopecia areata Journal of The American Academy of Dermatology · 2005 · 32 citations
    15. Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia Journal of the American Academy of Dermatology · 1994 · 32 citations
    16. A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism · 1996 · 29 citations
    17. Lash Ptosis in Congenital and Acquired Blepharoptosis Archives of ophthalmology · 2007 · 28 citations
    18. Congenital adrenal hyperplasia Dermato-endocrinology · 2009 · 26 citations
    19. Eyelash trichomegaly: review of congenital, acquired, and drug‐associated etiologies for elongation of the eyelashes International Journal of Dermatology · 2012 · 24 citations
    20. Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria British Journal of Ophthalmology · 2001 · 20 citations
    21. Congenital ptosis repair with a frontalis silicon sling: comparison between Fox's single pentagon technique and a modified Crawford double triangle technique Journal of American Association for Pediatric Ophthalmology and Strabismus · 2017 · 16 citations
    22. Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica 2010 · 16 citations
    23. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    24. Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up Chinese Medical Journal · 2006 · 16 citations
    25. Congenital Copper Deficiency: Copper Therapy and Dopamine‐β‐Hydroxylase Activity in the Mottled (Brindled) Mouse Journal of Neurochemistry · 1983 · 16 citations
    26. Molecular basis of congenital atrichia in humans and mice. PubMed · 1999 · 15 citations
    27. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency Indian Journal of Endocrinology and Metabolism · 2013 · 14 citations
    28. A Hairy Paradox: Congenital Triangular Alopecia with a Central Hair Tuft Dermatology · 2010 · 14 citations
    29. Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita) Journal of dermatology · 1989 · 14 citations
    30. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations