Search
for

    Sort by

    Research 751–780 of 1000+

    1. Woolly Hair in Two Siblings International Journal of Trichology · 2012
    2. Curly : a new hair defect mutation in the SELH/bc mouse strain 2009
    3. Research Snippets British Journal of Dermatology · 2005
    4. Alopecia frontal fibrosante: revisão bibliográfica dos aspectos gerais, fisiopatológicos, diagnósticos e do tratamento Brazilian Journal of Health Review · 2024
    5. Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico Revista Dermatológica Centro Uraga · 2022
    6. Odd-Looking Hair and Progressive Alopecia in Mother and Son JAMA Dermatology · 2014
    7. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis 2006 · 74 citations
    8. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene Genomics · 2004 · 50 citations
    9. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    10. Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair 1996 · 36 citations
    11. A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease Turkish Journal of Cerebrovascular Diseases · 2025
    12. Ocular aspects in biotinidase deficiency Clinical and genetic original studies Ophthalmic Paediatrics and Genetics · 1987 · 12 citations
    13. An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings International Journal of Contemporary Pediatrics · 2022
    14. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    15. 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증 대한피부과학회지 · 2011
    16. Netherton Syndrome Associated with Growth Hormone Deficiency Pediatric Dermatology · 2013 · 21 citations
    17. Trichothiodystrophy with Dysmyelination and Central Osteosclerosis American Journal of Neuroradiology · 2010 · 16 citations
    18. Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review International Journal of Trichology · 2012 · 13 citations
    19. GAPO syndrome – Report of a rare case and review Indian Journal of Case Reports · 2024 · 1 citations
    20. Congenital erythropoietic porphyria five years observation with standard treatment: a case report Oxford medical case reports · 2024
    21. A Rare Case of Biotinidase Deficiancy Journal of medical science and clinical research · 2021
    22. Netherton Syndrome Harper's Textbook of Pediatric Dermatology · 2019
    23. Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report Journal of Diabetic Association Medical College. · 2018
    24. Trichothiodystrophy -A Case Report- 中華皮膚科醫學雜誌 · 2003
    25. Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome Journal of Pediatric Gastroenterology and Nutrition · 2011 · 44 citations
    26. Hair Shaft Videodermoscopy in Netherton Syndrome Pediatric Dermatology · 2008 · 41 citations
    27. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    28. Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria British Journal of Ophthalmology · 2001 · 20 citations
    29. Atrichia with papular lesions International journal of trichology · 2011 · 8 citations
    30. Vitamin D Dependent Rickets Type II with Alopecia Journal of Life Sciences · 2013 · 2 citations