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Research 211–240 of 1000+
- A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
- Werner's syndrome: incidental finding during pregnancy
- Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
- Beyond Coincidence in Neurofibromatosis Type 1: Becker Nevus Adjacent to Plexiform Neurofibroma with Brachial Plexus Involvement and Integrated Mechanistic Illustration
- Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant
- 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
- Ehlers-Danlos syndrome: From bedside to bench
- Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
- When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
- Identification of Somatic <i>KRAS</i> Mutation in a Korean Baby with Nevus Sebaceus Syndrome
- A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)
- Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
- A Neonate with Blisters
- Tracking adult stem cells
- Aromatase deficiency in a male patient - Case report and review of the literature.
- Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- <i>De novo</i> mutation in the mitochondrial tRNA<sup>Leu(UUR)</sup> gene (A3243G) with rapid segregation resulting in MELAS in the offspring
- Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
- Congenital Adrenal Hyperplasia
- Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
- NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association
- 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
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
- An update of polycystic ovary syndrome: causes and therapeutics options
- Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in <i> KRT 5 </i>