Results 181 to 190 of about 1,240,539 (312)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

open access: yesInternational Journal of Genomics
Wenbin Shi   +5 more
doaj   +1 more source

Feasibility of neonatal intravenous nutrition for the management of gastroschisis in sub-Saharan Africa. [PDF]

open access: yesWorld J Pediatr Surg
Wright N   +20 more
europepmc   +1 more source

Neonatal Surgery [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1967
openaire   +2 more sources

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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]

open access: yesInt J Womens Health
Nahshon C   +17 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

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