Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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Phenotype of individuals with bi-allelic variants in FRRS1L
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Mild forms of tubulinopathies
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XRCC4-related Microcephalic Dwarfism
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Expanding the phenotypic and genotypic spectrum of neurodevelopmental disorders caused by mono- and biallelic KDM5A pathogenic variants
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Delineating the phenotype associated with 5q31 duplications involving PURA
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Menke-Hennekam syndrome
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Clinical and molecular description of Townes Brocks
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Genotype-phenotype characterization of YWHAG-related disorders
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Delineation of the adult phenotype of Nicolaides-Baraitser, Coffin-Siris, Costello and CFC syndrome
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HPDL bi-allelic variants