Scientific Publications
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2024Journal (source)Clin GenetNext Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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2024Journal (source)J MorpholAnatomy and mobility in the adult cadaveric craniocervical junction.
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2024Journal (source)Orphanet J Rare DisNew diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric...
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2024Journal (source)Sci RepNext generation phenotyping for diagnosis and phenotype-genotype correlations...
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2023Journal (source)J Exp MedHemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function ...