Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Craniosynostosis[original query]>>Evidence Synthesis [Product Type] |
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The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review. Bille Agnes et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2022 |
Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review. Al-Namnam Nisreen Mohammed et al. Gene therapy 2021 |
CLINGEN Actionability Report for Hypophosphatasia-ALPL ClinGen Actionability Working Group |
CLINGEN Actionability Report for Hypophosphatemic rickets, X-linked dominant-PHEX ClinGen Actionability Working Group |
CLINGEN Actionability Report for Loeys-Dietz Syndrome - SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 ClinGen Actionability Working Group |