Results 211 to 220 of about 1,610,988 (356)

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips   +8 more
wiley   +1 more source

Estimation of the Burden of Disease Due to Diabetes Mellitus Type 2 in the Population of Tabasco During the Period 2013-2023. [PDF]

open access: yesInt J Environ Res Public Health
Hernández-Bartolo DR   +11 more
europepmc   +1 more source

Factors Associated with Poor Sleep Quality among Type 2 Diabetes Mellitus Patients on Insulin Therapy

open access: hybrid, 2015
Abilash Sathyanarayanan   +5 more
openalex   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

Impact of diabetes mellitus type-2 on the outcomes following mitral transcatheter edge-to-edge repair (TEER): A meta-analysis. [PDF]

open access: yesAm Heart J Plus
Chigurupati HD   +13 more
europepmc   +1 more source

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen   +3 more
wiley   +1 more source

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