Results 161 to 170 of about 127,902 (310)

Primary Hypothyroidism and Alzheimer's Disease: A Tale of Two. [PDF]

open access: yesCell Mol Neurobiol, 2023
AlAnazi FH   +8 more
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

open access: yesClinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley   +6 more
wiley   +1 more source

Bilateral ovarian mass due to primary hypothyroidism: A case report. [PDF]

open access: yesJ Family Med Prim Care
Mubeena F   +4 more
europepmc   +1 more source

Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross‐Sectional Observational Study

open access: yesClinical Genetics, EarlyView.
This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Elice Carneiro Batista   +31 more
wiley   +1 more source

Italian guidelines for the management of adult individuals with primary hypothyroidism outside pregnancy. [PDF]

open access: yesJ Endocrinol Invest
Guglielmi R   +41 more
europepmc   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng   +14 more
wiley   +1 more source

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