Results 131 to 140 of about 18,538 (254)

Supporting Parents & Kids Through Lockdown Experiences (SPARKLE): A digital parenting support app implemented in an ongoing general population cohort study during the COVID-19 pandemic: A structured summary of a study protocol for a randomised controlled trial. [PDF]

open access: yesTrials, 2021
Kostyrka-Allchorne K   +14 more
europepmc   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice   +10 more
wiley   +1 more source

Who Is (Not) Engaging With a Digital Parenting Intervention in Tanzania? Analysis of Predictors Using Data From a Factorial Randomized Trial. [PDF]

open access: yesJMIR Pediatr Parent
Janowski R   +7 more
europepmc   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger   +28 more
wiley   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa   +4 more
wiley   +1 more source

Challenges of digital parenting

open access: yes
The rapid advancement of digital technologies at the end of the 20th century has influenced the development and upbringing of children, both in the educational environment and in their free time. The influence can have both positive and negative effects, and it is up to parents to manage this influence.
Dobi Barišić, Karolina, Škugor, Alma
openaire   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha   +6 more
wiley   +1 more source

Parental Attitudes and Digital Parenting in the Early Years: Development and Validation of the PADTS Scale. [PDF]

open access: yesChild Care Health Dev
McLaughlin K   +12 more
europepmc   +1 more source

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