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Prenatal Diagnosis
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September 23, 2024
Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series
Eleanor Broeren, Samantha Stover, Katya Bennett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
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April 30, 2026
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework
Enyonam Edoh, Chloe Mighton, Eleanor Broeren, et al.
Medrxiv : the Preprint Server for Health Sciences
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November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
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Search research articles
Search
Showing results (1-10 of 3) with videos related to
Sort By:
Page
of 1
Prenatal Diagnosis
|
September 23, 2024
Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series
Eleanor Broeren, Samantha Stover, Katya Bennett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 30, 2026
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework
Enyonam Edoh, Chloe Mighton, Eleanor Broeren, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
Page
of 1