Results 281 to 290 of about 1,688,219 (342)

"Microbial and immune modulation by 2'-fucosyllactose supplementation during gestation: a strategy to prevent food allergies". [PDF]

open access: yesGut Microbes
Brosseau C   +7 more
europepmc   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis   +8 more
wiley   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah   +6 more
wiley   +1 more source

Hereditary Elliptocytosis Resulting From Heterozygosity for β Spectrin Tandil

open access: yes
American Journal of Hematology, EarlyView.
María‐Angustias Molina‐Arrebola   +1 more
wiley   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier   +7 more
wiley   +1 more source

Cultural Malpractices and Associated Factors Among Mothers Attending Postnatal Care Within Six Weeks After Delivery at Gelemso General Hospital, Eastern Ethiopia. [PDF]

open access: yesHealth Serv Insights
Sadik J   +8 more
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

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