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Family Medicine
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New NIPT-based method reveals 33 pathogenic copy number variations in the Duchenne muscular dystrophy gene

New NIPT-based method reveals 33 pathogenic copy number variations in the Duchenne muscular dystrophy gene

by BGI GenomicsThe spectrum of maternal CNVs detected in the DMD gene. Credit:Clinical and Translational Medicine(2024). DOI: 10.1002/ctm2.1706A recent large cohort study, conducted jointl

New NIPT-based method reveals 33 pathogenic copy number variations in the Duchenne muscular dystrophy gene

by BGI GenomicsThe spectrum of maternal CNVs detected in the DMD gene. Credit:Clinical and Translational Medicine(2024). DOI: 10.1002/ctm2.1706A recent large cohort study, conducted jointl
Expanded Oral Health Education: Effects on Pediatric Dental Care

Expanded Oral Health Education: Effects on Pediatric Dental Care

Oral health is a critical aspect of overall well-being, especially for young children. The findings suggest that clinicians receiving enhanced training can effectively counsel parents and promote timely dental care.

Expanded Oral Health Education: Effects on Pediatric Dental Care

Oral health is a critical aspect of overall well-being, especially for young children. The findings suggest that clinicians receiving enhanced training can effectively counsel parents and promote timely dental care.
Researchers develop new technique for diagnosing disorders of sex development

Researchers develop new technique for diagnosing disorders of sex development

by Rob Clancy,Hudson Institute of Medical Research46,XY fibroblast derived SLCs exhibit significant change in morphology over the 1-month trans-differentiation and show subcellular expression of

Researchers develop new technique for diagnosing disorders of sex development

by Rob Clancy,Hudson Institute of Medical Research46,XY fibroblast derived SLCs exhibit significant change in morphology over the 1-month trans-differentiation and show subcellular expression of
Genetic diagnostics of ultra-rare diseases: Large multicenter study identifies 34 new genetic diseases

Genetic diagnostics of ultra-rare diseases: Large multicenter study identifies 34 new genetic diseases

by Inka Väth,University Hospital BonnPhotorealistic, synthetic portraits of various diseases diagnosed in the context of the study. The images were generated with GestaltGAN and do not allow any

Genetic diagnostics of ultra-rare diseases: Large multicenter study identifies 34 new genetic diseases

by Inka Väth,University Hospital BonnPhotorealistic, synthetic portraits of various diseases diagnosed in the context of the study. The images were generated with GestaltGAN and do not allow any