Results 151 to 160 of about 94,549 (308)

A Multimodal Laser‐Induced Graphene‐Based Flexible Sensor for Soft Robotic Hand Environmental Perception

open access: yesAdvanced Intelligent Systems, EarlyView.
A multimodal laser‐induced graphene (LIG)‐based flexible sensor is developed to detect proximity and contact signals. Integrated into a soft robotic hand, it enables vision‐free object searching and grasping. Combined with a convolutional neural network, the system achieves accurate material and texture recognition, enhancing the capability of ...
Youning Duo   +9 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican 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

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

From Microscale to Nanoscale Shadow Electrochemiluminescence Microscopy

open access: yesAngewandte Chemie, EarlyView.
In this research we report on the label‐free shadow electrochemiluminescence (shadow ECL) microscopy of microscale and nanoscale objects. By systematically investigating various influencing factors—including optical configuration, electrode activity, frame averaging, exposure time, and particle arrangement—we further confirm the nano‐imaging potential ...
Xiaodan Gou   +5 more
wiley   +2 more sources

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma   +12 more
wiley   +1 more source

The Isolated Thumb Domain of Acid‐Sensing Ion Channels Forms a Minimal Folding Unit Enabling Ligand Binding Studies

open access: yesAngewandte Chemie, EarlyView.
An independently folded thumb domain from acid‐sensing ion channels (ASICs) preserves ligand‐binding and proton‐sensing properties. NMR‐based interaction and pKa analyses uncover how endogenous and exogenous peptides modulate ASICs, providing a simplified model for rational drug discovery targeting proton‐gated ion channels.
Biswa P. Mishra   +14 more
wiley   +2 more sources

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