Results 111 to 120 of about 1,414 (228)

Criteria for early diagnosis of third molar agenesis: a retrospective radiographic study. [PDF]

Dental Press J Orthod, 2023
Dumas M, Mariano-Pereira P, Bugaighis I, Fernandes-Retto P, Proença L.   +4 more
europepmc   +1 more source

Serum Creatinine Levels in Children With Down Syndrome: A Single‐Centre Retrospective Study in Ireland

Acta Paediatrica, Volume 115, Issue 9, Page 1883-1890, September 2026.
ABSTRACT Aim To assess the proportion of children with Down syndrome (DS) with creatinine levels above standard paediatric reference ranges in a single‐centre Irish outpatient cohort. Methods We performed a retrospective cross‐sectional study of children aged 0–16 years attending the DS Clinic at Children's Health Ireland, Tallaght, between June 2022 ...
C. Broderick Farrell, V. Peronace, A. Stokes, F. McGrane, E. Molloy, M. Riordan, J. Balfe   +6 more
wiley   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

PREVALENCE OF PALMARIS LONGUS TENDON AGENESIS IN A POPULATION OF MEDICAL STUDENTS. [PDF]

Acta Ortop Bras
Tagliacozzo PD, Cassillo C, Gali JC, Dantas WR, Machado LG, Caetano EB.   +5 more
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Phenotypic Characterization of Five Children With PACS1‐NDD: Longitudinal Insights Into Development, Behavior, and Brain

Clinical Genetics, Volume 110, Issue 3, Page 347-357, September 2026.
Longitudinal multimodal assessment of five children with PACS1‐NDD revealed global developmental delays, prominent restricted and repetitive behaviors, relatively preserved social interest, heterogeneous language trajectories, and reduced gray and white matter volumes.
Fiona Journal, Nada Kojovic, Kenza Latrèche, Stefania Solazzo, Marie Schaer   +4 more
wiley   +1 more source

Pregnancy Complications in Uterine Anomalies-A Pilot Study. [PDF]

J Clin Med
Voic C, Mitranovici MI, Voidazan S, Mureşan CM, Bernad ES.   +4 more
europepmc   +1 more source

Primary Glaucoma in a Litter of Lop Rabbits

Veterinary Ophthalmology, Volume 29, Issue 5, September 2026.
ABSTRACT Objective To describe pectinate ligament dysplasia (PLD) and primary glaucoma in a litter of adult Lop rabbits. Animals Studied A litter of six adult Lop rabbits, three males and three females. Procedures The animals were surrendered to the shelter.
Melaney A. Mayes, Cory M. Howard, Ellen K. Gratch, Jamie C. Morrison, Kelsey A. Brakel, András M. Komáromy   +5 more
wiley   +1 more source

Agenesia total de pericardio en adulto mayor. Hallazgo por tomografía multicortes.

Revista Cubana de Cardiología y Cirugía Cardiovascular, 2020
Yamilé Marcos Gutiérrez, Aniley Martínez González, Ángela Castro Arca, Aylen Pérez Barreda, Llimia Bencomo Rodríguez   +4 more
doaj   +2 more sources

Interrupted arch or extreme coarctation? [PDF]

JTCVS Struct Endovasc
Carrel T.
europepmc   +1 more source