AUTS2 variant in a child diagnosed with autism spectrum disorder and intellectual disability disorder, a case report. [PDF]
Vardhan A +5 more
europepmc +1 more source
Terra Firma-Forme Dermatosis-More Than Just Dirty. [PDF]
Mohta A +4 more
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Analyzing the role of lipid elongases in Drosophila development: From barriers to behavior
Long chain fatty acids (LCFA) constitute a particular class of lipids whose developmental roles are coming under increasing scrutiny. These LCFAs not only have important cell specific functions but their dysregulation also forms the underlying cause of ...
Gupta, Prachi
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Topical Isotretinoin: Current Applications, Challenges, and Future Directions. [PDF]
Bouchelkia I, Tyring S.
europepmc +1 more source
Clinical Outcomes of Upper Eyelid Blepharoplasty. [PDF]
Sameen M, Rebecca.
europepmc +1 more source
Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis. [PDF]
Liang B +7 more
europepmc +1 more source
Hiperqueratosis epidermolítica: un patrón histopatológico asociado a múltiples patologías.
Hiperqueratosis epidermolítica es la descripción histológica de un proceso patológico epitelial, generalmente dérmico, pero también mucoso.
BALL, ELÍZABETH
core
A Case of Myxedema Coma in a 48-Year-Old Female Presenting With Altered Mental Status Post-trauma. [PDF]
Gurumoorthy RB, Gonzales L.
europepmc +1 more source
Mutations in X-linked dominant chondrodysplasia punctata
X-linked dominant chondrodysplasia punctata (CDPX2), also kknown as ConradiHunermann- Happle (CHH) syndrome (OMIM 302960) is a rare genetic disorder of cholesterol biosynthesis characterized clinically by punctuate calcifications in cartilage, asymmetric
Chavez, Sara Esther
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