Results 141 to 150 of about 613,154 (335)
The Role of Machine Learning in Congenital Heart Disease Diagnosis: Datasets, Algorithms, and Insights [PDF]
arXivCongenital heart disease is among the most common fetal abnormalities and birth defects. Despite identifying numerous risk factors influencing its onset, a comprehensive understanding of its genesis and management across diverse populations remains limited.
arxiv
Parathyroid localization [PDF]
, 1986 Twenty-nine consecutive patients with suspected primary hyperparathyroidism were examined preoperatively using ultrasound, sonographically guided fine needle aspiration, and aspirate immunostaining for PTH.
Borisch, B. +7 more
core +1 more source
European Journal of Endocrinology, 2016 AIM We previously reported that biallelic mutations in dual oxidase 2 (DUOX2) cause transient hypothyroidism. Since then, many cases with DUOX2 mutations have been reported.
Y. Maruo +6 more
semanticscholar +1 more source
THE ELECTROENCEPHALOGRAM IN CONGENITAL HYPOTHYROIDISM: A STUDY OF 10 CASES [PDF]
, 1961 E. A. Nieman
openalex +1 more source
MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis +12 more
wiley +1 more source
Congenital iodide-induced goitre with hypothyroidism. [PDF]
, 1968 Alaaeldin Hassan, G H Aref, A. S. Kassem
openalex +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
Pituitary-adrenal axis in Prader Willi syndrome [PDF]
, 2016 Purpose: Prader Willi syndrome (PWS) is a rare genetic condition that has concurrent endocrinological insufficiencies. The presence of growth hormone deficiency has been well documented, but adrenal insufficiency (AI) is not widely reported. A review was
Edgar, Olivia S. +2 more
core +2 more sources
[Neurodevelopmental assessment of patients with congenital hypothyroidism].
Revista médica de Chile (Impresa), 2017 Congenital hypothyroidism (CH) is the most common cause of preventable cognitive disability worldwide. Generally, it is produced by an alteration in the embryogenesis of the thyroid gland or by an alteration in the synthesis of thyroid hormones, which ...
A. Núñez +3 more
semanticscholar +1 more source
Serum thyrotrophin determination on day 5 of life as screening procedure for congenital hypothyroidism. [PDF]
, 1977 François Delange +4 more
openalex +1 more source