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Research 151–180 of 1000+
- A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
- Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
- Nonclassic 21-hydroxylase deficiency
- An Update of Congenital Adrenal Hyperplasia
- 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
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
- 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
- Netherton Syndrome Associated with Growth Hormone Deficiency
- Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- Trichothiodystrophy: Current Concepts
- GAPO syndrome – Report of a rare case and review
- Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
- Congenital erythropoietic porphyria five years observation with standard treatment: a case report
- A Rare Case of Biotinidase Deficiancy
- Netherton Syndrome
- Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report
- Trichothiodystrophy -A Case Report-
- Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
- Hair Shaft Videodermoscopy in Netherton Syndrome
- FOXN1 deficient nude severe combined immunodeficiency
- 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
- Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
- A Rare Case of Acrodermatitis Enteropathica in a One Year Old Child