Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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June 22, 2021
BCL11B related disorder : clinical phenotype, neuropsychological profile, brain MRI characteristics and epigenetic signature
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June 16, 2021
Search for patients with biallelic variants in genes implicated in the ufmylation pathway
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June 14, 2021
MAP3K7-associated phenotype
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May 24, 2021
KMT2B-related disorders without dystonia
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May 20, 2021
Phenotype-genotype study of TAF2
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May 18, 2021
KLHL11 pathogenic variant in patients with lichen planus, abnormalities of the nails and tumour proneness
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May 17, 2021
Genotype-phenotype correlation of the CHD8-related developmental disorder
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May 17, 2021
Phenothype-Genotype relationships in 3q29-microduplication syndrome
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May 13, 2021
Search for patients with patients with recessive variants in SNX13 gene
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May 12, 2021
Molecular and phenotypic delineation of the MEF2C-related syndrome