Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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March 2, 2023
Delineating the clinical and molecular spectrum of METTL5 recessive disorder
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March 2, 2023
Clinical and genetic delineation of autosomal dominant and recessive forms of ACTL6B-related disorders
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March 1, 2023
Phenotype of individuals with bi-allelic variants in FRRS1L
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February 7, 2023
Mild forms of tubulinopathies
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January 27, 2023
XRCC4-related Microcephalic Dwarfism
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January 19, 2023
Expanding the phenotypic and genotypic spectrum of neurodevelopmental disorders caused by mono- and biallelic KDM5A pathogenic variants
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January 17, 2023
Delineating the phenotype associated with 5q31 duplications involving PURA
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January 10, 2023
Menke-Hennekam syndrome
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November 23, 2022
Clinical and molecular description of Townes Brocks
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October 26, 2022
Genotype-phenotype characterization of YWHAG-related disorders