The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Mycorrhizal Inoculation Enhances Drought Tolerance in Potato (Solanum tuberosum L.) by Modulating Antioxidant Enzyme Activity and Related Gene Expression. [PDF]
Biology (Basel)Ettlili S +4 more
europepmc +1 more source
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst +4 more
wiley +1 more source
Identification, Transcriptome, and Proteome Analysis of Expansin-like Subfamilies in the Storage Root Across I. trifida (2x), Wild (4x, 6x) and Cultivated Sweet Potatoes. [PDF]
Plants (Basel)Li J +10 more
europepmc +1 more source
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady +10 more
wiley +1 more source
The Relation of Pectic Substances and Starch to Consistency and Moistnessof Sweet Potatoes.
, 1966 H. D. Swingle, Homer Swingle
openalex +2 more sources
Australian Journal of Social Issues, EarlyView.ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley +1 more source
Synergistic Co‐Doping of Barium and Cobalt Enables Stable and Active RuO2 for Acidic Water Oxidation
Angewandte Chemie, EarlyView.Achieving high activity and long‐term durability with non‐iridium catalysts for the acidic oxygen evolution reaction (OER) remains a challenge. This work presents a co‐doping strategy that incorporates Ba and Co into home‐made RuO2, which introduces lattice strain and favorable electronic structure regulation, thereby enhancing both activity and ...
Zhihao Pei +4 more
wiley +2 more sources