Results 261 to 270 of about 3,123,368 (386)

Molecular Analysis Based on Fine-Needle Aspiration Washout Samples in Thyroid Nodules. [PDF]

open access: yesGenes (Basel)
Fakı S   +10 more
europepmc   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani   +17 more
wiley   +1 more source

How Do Gait Outcomes Evolve in Adults with Spastic Cerebral Palsy Who Received Orthopedic Treatment in Childhood? [PDF]

open access: yesChildren (Basel)
Tabard-Fougère A   +4 more
europepmc   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Genomic and Molecular Associations with Preoperative Immune Checkpoint Inhibition in Patients with Stage III Clear Cell Renal Cell Carcinoma. [PDF]

open access: yesCancers (Basel)
Chou WH   +14 more
europepmc   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

open access: yesAnnals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji   +10 more
wiley   +1 more source

Unlocking the Continuous Flow Asymmetric Hydrogenation of Olefins Through the Development of a Non‐Deactivating Immobilized Iridium Catalyst

open access: yesAngewandte Chemie, EarlyView.
We have developed stable, robust, and reusable heterogeneous metal catalysts for an efficient continuous flow asymmetric hydrogenation (AH) of a variety of olefins, far beyond the typical benchmark AH. The products are produced continuously over long periods of time with high catalytic performance (up to 99% ee).
Jorge Faiges   +5 more
wiley   +2 more sources

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