Fetal akinesia deformation sequence 1
MONDO:0100101Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.
Also known as: FADS1, Pena-Shokeir syndrome type 1, Pena-Shokeir syndrome, type 1
10 clinical trials for this condition and its sub-types.
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Can a simple breath test diagnose diseases in children?
Knowledge-focused Recruiting nowThis study aims to see if analyzing the chemicals in a child's breath can help diagnose and monitor diseases like asthma, neurological disorders, and type 1 diabetes. Researchers will collect breath samples from up to 3,600 children and teens to find patterns linked to these cond…
Sponsor: University Children's Hospital Basel • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC