Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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January 19, 2024
LYST-related Chediak-Higashi-Syndrome
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January 18, 2024
Expanding the clinical and molecular spectrum of DPF2-associated Coffin-Siris syndrome type 7
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January 16, 2024
DNA methylation profile of Mowat-Wilson syndrome: a study on individuals with atypical presentation or uncertain genotypic correlation
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January 15, 2024
WDR45-related neurodegeneration with brain iron accumulation
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January 8, 2024
Deep phenotyping and natural history of AFG2A (SPATA5) and AFG2B (SPATA5L1) disorders
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January 5, 2024
PTPN11-related SHORT syndrome
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January 3, 2024
EPG5-related disorders
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January 2, 2024
Neurocognitive profile and correlations in patients with primary microcephaly and ophtalmological impairment due to KIF11, KIF14, PLK4, TUBGCP4, TUBGCP6 or RBBP8
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November 29, 2023
Electroclinical phenotypes associated with PIGU gene
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November 28, 2023
Deep phenotyping and natural history of WARS2-related disorder (particularly dystonia-parkinsonism)