Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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May 10, 2021
Search for patients with de novo variants in DCAF15
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May 10, 2021
Neurodevelopmental disease and brain abnormalities due to YWHAE loss-of-function variants
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May 7, 2021
Search for patients with severe neonatal presentation due to mutations of the ATL1 gene
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April 26, 2021
Osteopathia striata with cranial sclerosis: a further insight
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April 19, 2021
CAMK2A-related neurodevelopmental disorder – description of the clinical and neurological phenotype
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April 14, 2021
Implication of missense variants in the NSD1 gene in Sotos-like phenotype
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April 13, 2021
TRIP12-associated neurodevelopmental disorder
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April 12, 2021
ZBTB47/ZNF651 variants
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April 7, 2021
Expanding the phenotype related to de novo missense variants in HNRNPH2
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April 2, 2021
Correlation between intellectual disability and cutaneous skin mosaicism