Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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LRRC8A de novo variant
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SETD5 prenatal phenotype: a review
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Further expansion of the MAP4K4-related phenotype
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Expanding the phenotype of PBX1 syndrome
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Urinary glucotetrasaccharides elevation in IHPRF1 patients due to homozygous or compound heterozygous deleterious variants in NALCN gene
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Functional testing of UBE2O variants
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Pathogenic variants in PUS7 are responsible for IDDABS but could also be related to Tsukahara syndrome
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Parent-reported functional abilities in patients with FOXP1 syndrome
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CEP76 bi-allelic variants
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Recessive variants in SLC19A1