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You are here: Home1 / News members

September 2021 : New updated Orphanet Summaries

News members, News Public, Orphanet
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2021-09-23/0 Comments/by Marianne Le Dref
https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg 0 0 Marianne Le Dref https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg Marianne Le Dref2021-09-23 10:20:262021-09-23 10:20:26September 2021 : New updated Orphanet Summaries

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

Call, News Public
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2021-09-20/0 Comments/by Marianne Le Dref
https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg 0 0 Marianne Le Dref https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg Marianne Le Dref2021-09-20 10:37:032021-09-20 11:35:51Long-term cardiological manifestations in patients with mutation in the SKI gene : Call for collaboration (59)

KBG syndrome evolving phenotype: Call for collaboration (58)

Call, News Public
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2021-08-16/0 Comments/by SELATNIA Sarra
https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg 0 0 SELATNIA Sarra https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg SELATNIA Sarra2021-08-16 13:52:372021-08-16 13:52:37KBG syndrome evolving phenotype: Call for collaboration (58)

Further delineation of the phenotypic spectrum associated to BMP4 pathogenic variants: Call for collaboration (57)

Call, News Public
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2021-08-16/0 Comments/by SELATNIA Sarra
https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg 0 0 SELATNIA Sarra https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg SELATNIA Sarra2021-08-16 10:05:242021-08-16 10:05:24Further delineation of the phenotypic spectrum associated to BMP4 pathogenic variants: Call for collaboration (57)

Development of a DNA methylation episignature for variants in KDM3: Call for collaboration (56)

Call, News Public
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2021-08-16/0 Comments/by SELATNIA Sarra
https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg 0 0 SELATNIA Sarra https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg SELATNIA Sarra2021-08-16 09:14:012021-08-16 09:14:01Development of a DNA methylation episignature for variants in KDM3: Call for collaboration (56)

Search for patients harbouring a de novo heterozygous variant in SP9 gene: Call for collaboration (55)

Call, News Public
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2021-07-13/0 Comments/by SELATNIA Sarra
https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg 0 0 SELATNIA Sarra https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg SELATNIA Sarra2021-07-13 09:59:592021-07-13 10:34:36Search for patients harbouring a de novo heterozygous variant in SP9 gene: Call for collaboration (55)

MAP3K7-associated phenotype: Call for Collaboration (54)

Call, News members, News Public
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2021-06-28/0 Comments/by SELATNIA Sarra
https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg 0 0 SELATNIA Sarra https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg SELATNIA Sarra2021-06-28 18:51:552021-06-28 18:51:55MAP3K7-associated phenotype: Call for Collaboration (54)

EJPRD Resource Webinar: Metabolights – 2021 July 22th 15:00 -16:00 CEST

EJP RD, News members, News Public, webinar
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2021-06-24/0 Comments/by SELATNIA Sarra
https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg 0 0 SELATNIA Sarra https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg SELATNIA Sarra2021-06-24 10:05:242021-06-24 10:05:24EJPRD Resource Webinar: Metabolights – 2021 July 22th 15:00 -16:00 CEST

MOOC BIG – introduction to BioInformatics and Genomic medicine – English Version: July 5, 2021

Agenda, News members, News Public
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2021-06-15/0 Comments/by SELATNIA Sarra
https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg 0 0 SELATNIA Sarra https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg SELATNIA Sarra2021-06-15 12:02:332021-06-17 14:11:13MOOC BIG – introduction to BioInformatics and Genomic medicine – English Version: July 5, 2021

June 2021: New updated Orphanet summaries

News members, News Public, Orphanet
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2021-06-11/0 Comments/by SELATNIA Sarra
https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg 0 0 SELATNIA Sarra https://ern-ithaca.eu/wp-content/uploads/2020/04/ITHACA-logo.jpg SELATNIA Sarra2021-06-11 11:07:122021-06-11 11:16:06June 2021: New updated Orphanet summaries
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