Results 131 to 140 of about 108,632 (316)
Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family
Clinical Genetics, EarlyView.Biallelic PCSK1 loss‐of‐function mutations cause proprotein convertase 1/3 (PC1/3) deficiency, a polyendocrinopathy; a total of 36 patients were reported. The first deep intronic PCSK1 variant, (NM_000439.5):c.1196+2681T>A, was found to segregate with the disease in a consanguineous family, and is shown together with 32 reported mutations.
Leah M. Huber +6 more
wiley +1 more source
Duration of Effect of Thyroxine and Thiouracil in Young Chickens
, 1958 W.J. Mellen
openalex +1 more source
COMPARATIVE CALORIGENIC ACTION OF NORMAL AND PATHO-LOGICAL THYROID GLANDS ADMINISTERED IN EQUI-THYROXINE DOSES [PDF]
, 1935 Walter W. Palmer, Jessica P. Leland
openalex +1 more source
Clinical Endocrinology, 1991 There is much debate about what is the correct dose of thyroxine replacement therapy and whether suppression of the serum TSH concentration, when measured by an assay with a lower limit of detection of 0.1 mU/l or less, is a risk factor for osteoporosis.
openaire +4 more sources
Clinical Genetics, EarlyView.This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò +57 more
wiley +1 more source
Some Effects of Thyroxine On Live Weight, Metabolism and Wool Growth of Romney Ewes [PDF]
, 1959 A. H. Kirton +3 more
openalex +1 more source
Developmental Medicine &Child Neurology, EarlyView.Chromatin machinery influences how DNA is ‘wrapped’ around histones in the nucleosome of immune and brain cells. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16299 Abstract We report eight children with de novo pathogenic DNA variants in chromatin‐related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B.
Russell C. Dale +14 more
wiley +1 more source
INFLUENCE OF pH ON THE THYROXINE EFFECT UPON SUCCINOXIDASE SYSTEM
, 1956 Mitsuo Suzuki +3 more
openalex +2 more sources
THE LEVEL OF PLASMA PSEUDO-CHOLINESTERASE IN HYPOPHYSECTOMIZED AND HYPOPHYSECTOMIZED THYROXINE-TREATED RATS1 [PDF]
, 1949 Richard Hawkins, M. T. Nishikawara
openalex +1 more source
Quantitative observations on thyroxine and allied substances
Journal of Physiology, 1930 J. Gaddum
semanticscholar +1 more source