Results 261 to 270 of about 226,707 (335)

Enzyme response to thyrotoxicosis and hypothyroidism in human liver and muscle [PDF]

open access: yes, 1972
Bachmaier, B.   +5 more
core  

Pregnancy Following Thyroid Hormone Treatment in a Patient with Amenorrhea-Galactorrhea Due to Primary Hypothyroidism

open access: bronze, 1977
Toshihiro Aono   +5 more
openalex   +1 more source

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

open access: yesClinical Genetics, EarlyView.
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs   +10 more
wiley   +1 more source

The validity of serum TSH measurements by immunoassay [PDF]

open access: yes, 1980
Albertini, Alberto   +4 more
core  

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

open access: yesClinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam   +9 more
wiley   +1 more source

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