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Results for “"Kelly Peña"”

6 results

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

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Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson et al.

Journal: Genetics in MedicineYear: 2021Citations: 35

PURPOSE: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims ...

Life SciencesBiochemistry, Genetics and Molecular BiologyGeneticsOpen Access
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Abstract Supplement of the ECUADENDRO 2026: Second International Dendrochronology Conference

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Kelly Peña, Kathryn Allen, Iain Robertson, Dambaru Ballab Kattel et al.

Journal: Zenodo (CERN European Organization for Nuclear Research)Year: 2026

The 2nd International Dendrochronology Conference (ECUADENDRO 2026) brought together the global dendrochronological community to advance scientific dialogue on tree-ring research, climate variability, forest systems, and environmental governance. Building upon the strong scientific foundation establ...

Physical SciencesEarth and Planetary SciencesAtmospheric ScienceOpen Access
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Abstract Supplement of the ECUADENDRO 2026: Second International Dendrochronology Conference

Verified

Kelly Peña, Kathryn Allen, Iain Robertson, Dambaru Ballab Kattel et al.

Journal: Zenodo (CERN European Organization for Nuclear Research)Year: 2026

The 2nd International Dendrochronology Conference (ECUADENDRO 2026) brought together the global dendrochronological community to advance scientific dialogue on tree-ring research, climate variability, forest systems, and environmental governance. Building upon the strong scientific foundation establ...

Physical SciencesEarth and Planetary SciencesAtmospheric ScienceOpen Access
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Ecuadendro 2025: The 1st Ecuadorian Dendrochronology Conference

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Kelly Peña, Andreas J. Kirchhefer, Johannes Edvardsson, Neil Pederson et al.

Journal: Tree-Ring ResearchYear: 2025

The 1st Ecuadorian Dendrochronology Conference (ECUADENDRO 2025) took place in Daule, Ecuador, on January 23–24, 2025, with the generous sponsorship of the Tree-Ring Society. The event attracted 230 participants from 45 countries, bringing together leading experts in various subfields of tree-ring s...

Physical SciencesEarth and Planetary SciencesAtmospheric Science
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Delineating the molecular and phenotypic spectrum of the <i>SETD1B</i> -related syndrome

Verified

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson et al.

Journal: bioRxiv (Cold Spring Harbor Laboratory)Year: 2021

ABSTRACT Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay and seizures. To date, clinical features have been described for eleven patients with (likely) pathogenic SETD1B sequence variants. We perform an...

Life SciencesBiochemistry, Genetics and Molecular BiologyGeneticsOpen Access
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Genome Sequence of the Historical Clinical Isolate Burkholderia pseudomallei PHLS 6

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Patrik D’haeseleer, Shannon L. Johnson, Karen W. Davenport, Patrick Chain et al.

Journal: Genome AnnouncementsYear: 2016

Here, we present the draft genome sequence of Burkholderia pseudomallei PHLS 6, a virulent clinical strain isolated from a melioidosis patient in Bangladesh in 1960. The draft genome consists of 39 contigs and is 7,322,181 bp long.

Health SciencesMedicineEpidemiologyOpen Access
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