Results 161 to 170 of about 407,921 (268)

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston   +6 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco   +2 more
wiley   +1 more source

Reaction Environment Engineering for Selective C3+ Formation in CO2 Electroreduction: Progress and Perspectives

open access: yesAngewandte Chemie, EarlyView.
This work focuses on how to improve the selectivity and activity of electrocatalytic CO2 reduction to C3+ products, by the integration of electrocatalyst and electrolyte co‐design. We summarize key C3+ formation mechanisms and provide a comprehensive reaction network through thermodynamic analysis.
Ling Chen, Damien Voiry, Yan Jiao
wiley   +2 more sources

Infrared Thermographic Evaluation Following Hemilaminectomy in Dogs with Thoracolumbar Intervertebral Disc Extrusion: A Pilot Study. [PDF]

open access: yesAnimals (Basel)
Zaha C   +10 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Late syphilis presenting with extensive granulomatous cutaneous and pulmonary involvement. [PDF]

open access: yesIDCases
Shurmelova I   +5 more
europepmc   +1 more source

Spatial Cell Death and Oxidative Stress Dynamics in Gas Plasma‐Treated Tumor Tissues

open access: yesAdvanced NanoBiomed Research, EarlyView.
Schematic representation of the four experimental models to study tissue penetration and oxidation. Four tissue models were used. Human pancreatic cancer cells were grown on the chorioallantois membrane of chicken embryos and gas plasma‐treated in ovo, murine colorectal tumor tissue was gas plasma‐exposed ex vivo, murine squamous cell carcinoma cells ...
Anke Schmidt   +4 more
wiley   +1 more source

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