News members Archives - ERN ITHACA

Delineation of the phenotypic spectrum associated to PIGW bi-allelic variants and study of a genotype-phenotype correlation: call for collaboration (66)

Call, News Public

2021-11-17/0 Comments/by Marianne Le Dref

Clinical and functional characterization of GRIA-related disorders: translating genetic diagnostics into personalized treatment: Call for collaboration (65)

Call, News Public

2021-11-05/0 Comments/by Marianne Le Dref

SMARCC2-related developmental delay, genotype-phenotype correlations: Call for collaboration (64)

Call, News Public

2021-10-26/0 Comments/by Marianne Le Dref

Biallelic variants in BUD23 (WBSCR22) and TRMT112: Call for collaboration (63)

Call, News Public

2021-10-18/0 Comments/by Marianne Le Dref

Biallelic mutations of ERLIN1: Call for collaboration (62)

Call, News Public

2021-10-18/0 Comments/by Marianne Le Dref

SPOP-related Neurodevelopmental Disorders : Call for collaboration (60)

Call, News Public

2021-10-13/0 Comments/by Marianne Le Dref

HIDEA syndrome caused by biallelic P4HTM pathogenic variants: Call for collaboration (61)

Call, News Public

2021-10-13/0 Comments/by Marianne Le Dref

September 2021 : New updated Orphanet Summaries

News members, News Public, Orphanet

2021-09-23/0 Comments/by Marianne Le Dref

Long-term cardiological manifestations in patients with mutation in the SKI gene : Call for collaboration (59)

Call, News Public

2021-09-20/0 Comments/by Marianne Le Dref

KBG syndrome evolving phenotype: Call for collaboration (58)

Call, News Public

2021-08-16/0 Comments/by SELATNIA Sarra