Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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January 17, 2023
Delineating the phenotype associated with 5q31 duplications involving PURA
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January 10, 2023
Menke-Hennekam syndrome
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November 23, 2022
Clinical and molecular description of Townes Brocks
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October 26, 2022
Genotype-phenotype characterization of YWHAG-related disorders
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October 24, 2022
Delineation of the adult phenotype of Nicolaides-Baraitser, Coffin-Siris, Costello and CFC syndrome
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October 24, 2022
HPDL bi-allelic variants
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October 7, 2022
The phenotype associated with MYO18A variants
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October 3, 2022
Prenatal and fetal description of 3M Syndrome
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September 29, 2022
Green says go, amber slow, red spells woe
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September 26, 2022
ABCA2 variants – defining genotype-phenotype correlation