Results 291 to 300 of about 2,288,906 (387)

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf   +2 more
wiley   +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

Community music, identity and belonging among Dutchies in Australia: Comparing assimilation to multiculturalism

open access: yesAustralian Journal of Social Issues, EarlyView.
Abstract This article discusses variations in the experiences of Dutch identity and belonging to a music‐making group in the Dutch migrant community in Melbourne, Australia. It answers the research question “Which variations of ‘Dutch identity’ are there for the participants and how does music‐making relate to this?”. Feelings of identity and belonging
Karien Dekker   +2 more
wiley   +1 more source

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