A novel <i>NR0B1</i> pathogenic variant in congenital adrenal hypoplasia presenting with azoospermia and normal testosterone. [PDF]
Meireles AR +3 more
europepmc +1 more source
A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report. [PDF]
Tao X, Yin M, Gang X.
europepmc +1 more source
Clinical characterization of 39 patients with autoimmune pulmonary alveolar proteinosis. [PDF]
Zhong YF, Lv X.
europepmc +1 more source
Genetic and clinical determinants of tacrolimus accumulation in early liver transplantation: evidence for a combined genotype-antibiotic effect. [PDF]
Guo J +6 more
europepmc +1 more source
Prevalence and risk factors of cholelithiasis in patients with spinal cord injury: A cross-sectional analysis. [PDF]
Fan R +5 more
europepmc +1 more source
Elevating Circulating L-Kynurenine Promotes Frailty in Aging Mice. [PDF]
Kawaida MY +8 more
europepmc +1 more source
Phenotyping of Fontan-Associated Renal Physiology and Disease. [PDF]
van Hassel G +7 more
europepmc +1 more source
Early Diagnosis of Nieman-Pick Disease Type C and Rapid Response of Gelastic Cataplexy to Treatment With N-Acetyl-L-Leucine: A Case Report. [PDF]
Rojnueangnit K +3 more
europepmc +1 more source
Thyroid function and depression among adolescents: a cross-sectional study exploring sex-based differences. [PDF]
Xi S +11 more
europepmc +1 more source

