Results 91 to 100 of about 19,788 (203)
Ecology Letters, Volume 29, Issue 4, April 2026.Life‐history theory predicts a trade‐off between allocation of resources to reproduction or self‐maintenance, yet how environmental variability shapes this trade‐off remains poorly understood. We show that black‐browed albatrosses (Thalassarche melanophris) breeding in more variable environments display slower life histories (slow, late‐onset ...
Bertille Mohring +13 more
wiley +1 more source
Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 403-416, April 2026.ABSTRACT Background Improving care and research for individuals with genetic intellectual disabilities (GID) requires the identification and measurement of relevant patient reported outcomes (PROs). PROs represent the patient perspective on their health status.
Nadia Y. van Silfhout +5 more
wiley +1 more source
Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene
Clinical Case Reports, Volume 14, Issue 3, March 2026.A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco +5 more
wiley +1 more source
Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report
ChildrenBackground: Joubert syndrome (JS) is a rare ciliopathy characterized by cerebellar and brainstem malformations and the molar tooth sign on magnetic resonance imaging. Motor impairment is primarily driven by axial hypotonia, impaired postural control, and
Łukasz Mański +7 more
doaj +1 more source
eLife, 2015 Small G-proteins of the ADP-ribosylation-factor-like (Arl) subfamily have been shown to be crucial to ciliogenesis and cilia maintenance. Active Arl3 is involved in targeting and releasing lipidated cargo proteins from their carriers PDE6δ and UNC119a/b ...
Katja Gotthardt +5 more
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Neurocognitive Functions and Behavior in Joubert Syndrome
Pediatric Neurology Briefs, 2016 Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.
Andrea Poretti, Gwendolyn J. Gerner
doaj +1 more source
Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
Case Reports in Pediatrics, 2015 We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement.
Rama Krishna Sanjeev +4 more
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Joubert syndrome with cleft palate
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014 Joubert syndrome is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the "molar tooth sign" on axial magnetic resonance images. Many congenital malformations such as
Annavarapu Gopalakrishna +4 more
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Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
Case Reports in Pediatrics, 2011 We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention.
Harjinder Gill +4 more
doaj +1 more source