A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu +10 more
wiley +1 more source
The enzymic hydrolysis of steroid conjugates. 1. Sulphatase and β-glucuronidase activity of molluscan extracts [PDF]
, 1956 S. R. Stitch +2 more
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Steroid hydroperoxides as intermediates in steroid biogenesis [PDF]
Biochemical Journal, 1971 G. Kan, J E Van Lier
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi +7 more
wiley +1 more source
The action of steroids on glycogen breakdown in surviving muscle [PDF]
, 1948 F. Verzár, V. Wenner
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini +8 more
wiley +1 more source
Glucocorticoids can reduce mortality in patients with severe community-acquired pneumonia: a systematic review and meta-analysis of randomized controlled trials. [PDF]
Eur J Med ResGu X +8 more
europepmc +1 more source
EFFECTS OF INCUBATING COMPOUND E AND RELATED STEROIDS WITH VARIOUS SURVIVING RAT TISSUES
, 1952 John J. Schneider, Patricia M. Horstmann
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On the Conversion of 3alpha,7alpha,12alpha-Trihydroxycoprostanic Acid to Cholic Acid in Rat Liver Homogenates. Bile Acids and Steroids. 46. [PDF]
, 1957 S. Bergström +6 more
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