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Research 61–90 of 1000+
- Ocular aspects in biotinidase deficiency Clinical and genetic original studies
- An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings
- Trichothiodystrophy -A Case Report-
- Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
- Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature
- Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
- Type II Vitamin D Dependent Rickets: A Case Report
- Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
- Alopecia totalis in an infant
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
- Netherton Syndrome Associated with Growth Hormone Deficiency
- Trichothiodystrophy: Current Concepts
- GAPO syndrome – Report of a rare case and review
- Congenital erythropoietic porphyria five years observation with standard treatment: a case report
- A Rare Case of Biotinidase Deficiancy
- Netherton Syndrome
- Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
- Hair Shaft Videodermoscopy in Netherton Syndrome
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
- Atrichia with papular lesions
- Vitamin D Dependent Rickets Type II with Alopecia
- LEKTI: Netherton Syndrome and Atopic Dermatitis
- A Rare Case of Acrodermatitis Enteropathica in a One Year Old Child
- A rare case of Vitamin D dependent rickets type II: a case report
- ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
- Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review