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European Journal of Human Genetics : EJHG
|
February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Frontiers in Genetics
|
August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Christoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
European Journal of Human Genetics : EJHG
|
March 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, et al.
Research Square
|
January 8, 2026
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis
Mansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, et al.
American Journal of Human Genetics
|
February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Science Translational Medicine
|
May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Frédéric Ebstein, Sébastien Küry, Victoria Most, et al.
Nature Genetics
|
April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics
|
May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Ebiomedicine
|
May 20, 2023
Dissecting the genetic heterogeneity of gastric cancer
Timo Hess, Carlo Maj, Jan Gehlen, et al.
Ebiomedicine
|
July 22, 2023
Corrigendum to "Dissecting the genetic heterogeneity of gastric cancer"
Timo Hess, Carlo Maj, Jan Gehlen, et al.
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of 11
Search research articles
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Showing results (91-100 of 102) with videos related to
Sort By:
Page
of 11
European Journal of Human Genetics : EJHG
|
February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Frontiers in Genetics
|
August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Christoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
European Journal of Human Genetics : EJHG
|
March 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, et al.
Research Square
|
January 8, 2026
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis
Mansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, et al.
American Journal of Human Genetics
|
February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Science Translational Medicine
|
May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Frédéric Ebstein, Sébastien Küry, Victoria Most, et al.
Nature Genetics
|
April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics
|
May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Ebiomedicine
|
May 20, 2023
Dissecting the genetic heterogeneity of gastric cancer
Timo Hess, Carlo Maj, Jan Gehlen, et al.
Ebiomedicine
|
July 22, 2023
Corrigendum to "Dissecting the genetic heterogeneity of gastric cancer"
Timo Hess, Carlo Maj, Jan Gehlen, et al.
Page
of 11