Results 151 to 160 of about 8,769 (269)

Social and Anxiety‐Like Behaviors Are Affected in Juvenile Mice With Gli2+/− but Not Gli3+/𝛥699 Genetic Modifications

open access: yesBrain and Behavior, Volume 16, Issue 6, June 2026.
Across Gli3+/Δ699, Gli2+/−, and combined Gli2+/−;Gli3+/Δ699 mice (males and females, with wild‐type controls), GLI2 and GLI3 differentially regulate anogenital distance and juvenile behavior, with amplified effects under combined disruption, whereas circulating steroids and sexually dimorphic nucleus area remain unchanged. Created in BioRender. Niepsuj,
Thomas Niepsuj   +6 more
wiley   +1 more source

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian   +7 more
wiley   +1 more source

The Burden of Lower Limb Deformities in Low- and Lower-Middle-Income Countries: A Scoping Review. [PDF]

open access: yesJ Pediatr Soc North Am
Montoya RL   +4 more
europepmc   +1 more source

Adverse outcomes among pregnant women with COVID‐19 according to hospitalization status: A prospective individual participant data meta‐analysis in Europe and North America

open access: yesInternational Journal of Gynecology &Obstetrics, Volume 173, Issue 3, Page 1197-1206, June 2026.
Abstract Background Understanding the varied impact of COVID‐19 severity on pregnancy outcomes is crucial for informed clinical management and targeted interventions. Objective To evaluate the impact of COVID‐19 on pregnancy outcomes, distinguishing between pregnant women managed in primary care and those requiring hospitalization.
Odette de Bruin   +73 more
wiley   +1 more source

Clinical Variability Within the <i>PLOD2</i>-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series. [PDF]

open access: yesGenes (Basel)
Merkuryeva ES   +10 more
europepmc   +1 more source

The complete Subtalar Release CSTR procedure for the surgical treatment of congenital clubfoot deformites

open access: yesActa Orthopaedica et Traumatologica Turcica
We have evaluted and discussed the 1 year foolow up of Complete Subtalar Release Procedure we have performed, for 16 Congenital Clup Foot Deformities of 11 children, in University of Istanbul Medical Faculty, Orthopaedics and Traumatology Departmant ...
Azmi Hamzaoglu   +4 more
doaj  

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková   +8 more
wiley   +1 more source

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