Results 171 to 180 of about 203,767 (309)

Beachrock formation influenced by co‐seismic deformation and relative sea‐level changes during the Holocene near the Gulf of Saros, Türkiye (NE Aegean Sea)

open access: yesBoreas, EarlyView.
This is the first proof of beachrock found on the nearshore of the Gulf of Saros. Beachrock generation was influenced by tectonic activity, geomorphological processes, and sedimentation. The Late Holocene beachrock deposits were altered by co‐seismic deformation.
Ufuk Tari
wiley   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

open access: yesClinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam   +9 more
wiley   +1 more source

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

open access: yesClinical Genetics, EarlyView.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti   +17 more
wiley   +1 more source

Zeolite Facies Metamorphism, Geochemistry and Some Aspects of Trace Element Redistribution in Altered Basalts of DSDP, Leg 37

open access: bronze, 1977
A. J. Andrews   +6 more
openalex   +1 more source

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

open access: yesClinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel   +10 more
wiley   +1 more source

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