Results 161 to 170 of about 803,099 (294)

Outcomes from a Novel Approach to Studying Consumer Genetic Testing for Germline Cancer and Cardiovascular Risk

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the growing availability of consumer genetic testing for serious disease risks, outcomes data remain limited for individuals undergoing testing for high‐ and moderate‐penetrance genes. To address this gap, we evaluated the feasibility of the Consumer Genetic Testing Outcomes Evaluation Paradigm (CGT‐OEP), a novel approach for studying ...
Madison K. Kilbride   +6 more
wiley   +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

HEADACHES OF NASAL ORIGIN

open access: bronze, 1928
NULL AUTHOR_ID
openalex   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Health behaviours and affective states of partners of fly‐in fly‐out workers: A daily diary study

open access: yesAustralian Journal of Social Issues, EarlyView.
Abstract Partners of fly‐in fly‐out (FIFO) workers face increases in demands, for instance in care and family responsibilities, particularly in the absence of workers; however, little is known about how their daily life experiences influence their health across the FIFO work cycle.
Bernard Kwadwo Yeboah Asiamah‐Asare   +3 more
wiley   +1 more source

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