Results 281 to 290 of about 1,193,465 (362)

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim   +2 more
wiley   +1 more source

Structured early childhood education exposure and childhood cognition - Evidence from an Indian birth cohort. [PDF]

open access: yesSci Rep
Koshy B   +7 more
europepmc   +1 more source

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter   +5 more
wiley   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell   +21 more
wiley   +1 more source

Results from the PROmoting Early Childhood Outside cluster randomized trial evaluating an outdoor play intervention in early childhood education centres. [PDF]

open access: yesSci Rep
Ramsden R   +12 more
europepmc   +1 more source

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring   +4 more
wiley   +1 more source

Implementation strategies: lessons learned during an e-learning intervention to improve dietary behaviors and feeding practices in early childhood education and care. [PDF]

open access: yesBMC Nutr
Lian H   +11 more
europepmc   +1 more source

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