Results 241 to 250 of about 126,108 (297)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Evaluation of Women With Peripartum or Dilated Cardiomyopathy and Their First-Degree Relatives: The DCM Precision Medicine Study. [PDF]

open access: yesCirc Genom Precis Med
Kransdorf EP   +30 more
europepmc   +1 more source

Quantitative Assessment of Myocardial Perfusion in Physiological and Pathological Hypertrophy Using Myocardial Contrast Echocardiography

open access: yesClinical Cardiology, Volume 49, Issue 5, May 2026.
Myocardial hypertrophy can be classified into physiological and pathological types based on etiology, with significant differences in clinical outcomes. This study utilized myocardial contrast echocardiography to quantitatively assess myocardial microcirculatory perfusion in patients with different types of hypertrophy.
Liu Chunyao   +9 more
wiley   +1 more source

Association Between Polymorphisms rs11003125 and rs7096206 of the MBL2 Gene and the Stages of Hepatitis B Progression in Burkina Faso: A Comparative Cross‐Sectional Study

open access: yesHealth Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Objectives Hepatitis B virus (HBV) infection remains a major global health burden, with disease progression influenced by host genetic and immune factors, including variants in the mannose‐binding lectin 2 (MBL2) gene. This study aimed to evaluate the association between MBL2 polymorphisms and clinical outcomes of HBV infection ...
Minane Nafissa Triande   +13 more
wiley   +1 more source

Recurrent myocarditis-like episodes in a patient with a rare variant in DES gene: an uncommon hot-phases cardiomyopathy. [PDF]

open access: yesESC Heart Fail
Manfrin L   +13 more
europepmc   +1 more source

Unveiling Arrhythmogenic Cardiomyopathy Masquerading as Myocarditis in a Professional Athlete. [PDF]

open access: yesJACC Case Rep
Garba DL   +5 more
europepmc   +1 more source

Reliability of Gemini 2.5 Pro, ChatGPT 4.1, DeepSeek V3, and Claude Opus 4 in generating standardized CMR protocols. [PDF]

open access: yesEur Radiol Exp
Licu RA   +11 more
europepmc   +1 more source

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