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Research 811–840 of 1000+
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1
- Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
- A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
- 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
- Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
- Vulvovaginal involvement in Netherton syndrome: A case report
- 574 A deep learning classifier for the analysis of tiger tail banding in trichothiodystrophy
- A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
- Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Ovarian steroid cell tumor in a teenager masquerading as polycystic ovary syndrome: a case report and literature review
- Generalized atrophic benign epidermolysis bullosa.
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
- Atrichia with papular lesions resulting from mutations in the rhesus macaque (<i>Macaca mulatta</i>) <i>hairless</i> gene
- Nuclear Localization of STAT5A Modified with O-Linked N-Acetylglucosamine and Early Involution in the Mammary Gland of Hirosaki Hairless Rat
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
- Central nervous system involvement in autoimmune polyglandular syndrome
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Severe metabolic disorders coexisting with Werner syndrome: a case report
- Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
- Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome
- Exploring the efficacy of testosterone undecanoate in male children with 5α‐reductase deficiency
- Congenital atrichia associated with situs inversus and mesocardia
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Collodion baby case series: the success of oral retinoic acid
- Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency