Results 61 to 70 of about 5,402 (155)
Linking differences in personality to demography in the wandering albatross
Population dynamics are shaped by individual differences. With a good understanding of the relationships between individual differences and vital rates, population models can be improved to yield more realistic and detailed demographic projections. Personality is expected to shape individual differences in performance.
Joanie Van de Walle +7 more
wiley +1 more source
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
doaj +1 more source
Neurocognitive Functions and Behavior in Joubert Syndrome
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
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
doaj +1 more source
Joubert syndrome with cleft palate
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
doaj +1 more source
Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
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
Joubert Syndrome: A Case Report
Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Prakash Kafle +5 more
doaj +1 more source
Case presentation: A 20 month-old hypotonic boy with a history of preterm labor at 32 weeks of gestational age, secondary generalized seizures in infancy, hypothyroidism (T4: 2, TSH: 14); motor and speech developmental delay, mild ataxia and renal ...
Hosseininejad SM +2 more
doaj
Joubert Syndrome: Radiographic Images
No ...
Reza Bidaki +3 more
doaj

