Results 161 to 170 of about 88,024 (314)

Nature-Positive Solutions and CGIAR: A pop up exhibit

open access: yes
Nature-Positive Solutions and CGIAR is a pop-up art exhibition featuring information artworks produced in collaboration with The Lexicon of Sustainability and the CGIAR Nature-Positive Solutions Initiative.
CGIAR Nature-Positive Solutions Initiative   +1 more
core  

Better 10‐Year Cerebrovascular Outcome After Transplant Than on Standard‐Care in Sickle Cell Anemia: DREPAGREFFE Trial

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Management of cerebral vasculopathy in sickle cell anemia (SCA) includes standard‐care, that is, chronic transfusion (CT) or hydroxyurea, and hematopoietic cell transplantation (HCT). DREPAGREFFE‐1 (December 2010/June 2013), a French multicenter trial, was the first prospective trial comparing standard‐care to match sibling donor (MSD)‐HCT in ...
Francoise Bernaudin   +40 more
wiley   +1 more source

Building a gene editing lexicon: a model for rare and inherited disorders. [PDF]

open access: yesGene Ther
Valentino LA   +9 more
europepmc   +1 more source

Nature-Positive Solutions: Using the ecological benefits framework

open access: yes
Nature-positive food systems use agricultural practices that regenerate ecosystems while nourishing communities. They balance the needs of people and the planet, ensure long-term food security, reduce environmental harm, and support more resilient rural ...
Lexicon of Impacts
core  

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde   +12 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Ousiometrics: The essence of meaning aligns with a power-danger-structure framework instead of valence-arousal-dominance. [PDF]

open access: yesSci Adv
Dodds PS   +9 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

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