Maternal TPO-Ab status modulates associations between gestational thyroid hormones and neonatal TSH in 10,154 Chinese mother-newborn pairs. [PDF]
Wang H +5 more
europepmc +1 more source
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc +7 more
wiley +1 more source
Antihypertensive Drugs and Dental Caries Risk: A Drug–Target Mendelian Randomization Analysis
Wenbin Shi +5 more
doaj +1 more source
Incidence and factors associated with neonatal hypoglycaemia in Chinese newborns delivered via caesarean section: a cross-sectional study. [PDF]
Pu L +6 more
europepmc +1 more source
Feasibility of neonatal intravenous nutrition for the management of gastroschisis in sub-Saharan Africa. [PDF]
Wright N +20 more
europepmc +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Linking Neonatal Birth Weight with AMH Levels in Umbilical Cord and Maternal Blood: A Prospective Study. [PDF]
Nahshon C +17 more
europepmc +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source

