Results 91 to 100 of about 611,680 (333)

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non‐mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized.
Ruth C. Brown   +7 more
wiley   +1 more source

Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Health care transition is a process by which children with chronic medical conditions gradually and purposefully move from pediatric to adult‐centered health care systems. While transition guidelines have been published by multiple national and international organizations, transition processes have not been optimized for many populations ...
Leena Nahata   +3 more
wiley   +1 more source

Developing a Neonatal Pulmonary Hypertension Core Outcome Set (NeoPH COS)-A Study Protocol. [PDF]

open access: yesPulm Circ
Morgan CE   +5 more
europepmc   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei   +10 more
wiley   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

Female rural–urban migrants and online marketplaces in emerging economies: Evidence from Thailand and Vietnam

open access: yesAsia &the Pacific Policy Studies, Volume 9, Issue 3, Page 317-342, September 2022., 2022
Abstract This research aimed to examine the factors affecting the participation of female rural–urban migrants in online marketplaces, and the welfare gains and their distribution. Our analysis was based on a unique dataset of rural households, villages, and rural–urban migrants in Thailand and Vietnam.
Trung Thanh Nguyen, Manh Hung Do
wiley   +1 more source

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