Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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May 12, 2023
Parent-reported functional abilities in patients with FOXP1 syndrome
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May 2, 2023
CEP76 bi-allelic variants
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May 2, 2023
Recessive variants in SLC19A1
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May 2, 2023
Further expansion of the ACTL6A-related phenotype
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April 27, 2023
Vitamin D and calcium metabolism in adults with Williams-Beuren syndrome
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April 27, 2023
Clinical characterization of gnathodiaphyseal dysplasia related to heterozygous mutation of ANO5 gene
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March 15, 2023
Expanding the phenotype of patients with bi-allelic variants in SCAPER
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March 15, 2023
Clinical, radiological, and molecular features of TOE1-related disorders
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March 13, 2023
Microcephalic dwarfisms: growth parameters, brain imaging and cognitive profile
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March 13, 2023
Delineating the clinical and molecular spectrum of NSMCE2 recessive disorder