Results 221 to 230 of about 39,956 (278)

Plenary Abstracts Session & Oral Presentations

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype. [PDF]

Mol Syndromol
Nair P, Bizzari S, Mehawej C, Chouery E, Audi P, Corbani S, Korban R, Mahfoud D, Superti-Furga A, El-Hayek S, Megarbane A.   +10 more
europepmc   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia. [PDF]

Neurospine
Sao K, Risbud MV.
europepmc   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia

International Journal of Molecular Sciences, 2021
Bone development is a tightly regulated process. Several integrated signaling pathways including HH, PTHrP, WNT, NOTCH, TGF-β, BMP, FGF and the transcription factors SOX9, RUNX2 and OSX are essential for proper skeletal development.
Valerie Cormier-Daire, Cormier-Daire Valerie   +1 more
exaly   +2 more sources