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Research 121–150 of 1000+
- Southern African HIV Clinicians Society gender-affirming healthcare guideline for South Africa
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
- The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
- Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair"
- Valproic acid. A reappraisal of its pharmacological properties and clinical efficacy in epilepsy.
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Valproic acid in childhood epilepsy: anticonvulsive efficacy in relation to its plasma levels.
- Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
- Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair
- Establishment of Tsc2-deficient rat embryonic stem cells
- The Association Between Autism Spectrum Disorders and Dietary Intake of Carbohydrates in School‐Aged Children in Iran: A Case–Control Study
- Persistent scurvy after vitamin C supplementation in a high-risk patient: a case report
- Cutaneous Signs of Malnutrition Secondary to Eating Disorders
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- Life Events Preceding Alopecia Areata Onset—a Descriptive Retrospective Cohort Study Focusing on Strain
- Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss
- P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
- DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
- 689 Cell-type-specific nascent transcriptomics through PRECISE-seq reveal molecular principles of tissue dynamics
- The ATP sensitive potassium channel (KATP) is a novel target for migraine drug development
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- Primary Essential Cutis Verticis Gyrata: A Case Report with a Review of Literature
- Industry Updates from the Field of Stem Cell Research and Regenerative Medicine in December 2019