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Showing results (91-100 of 97) with videos related to

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HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
Clinical Genetics|March 16, 2017
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genesE Di Gregorio, E Riberi, E F Belligni, et al.
Journal of Medical Genetics|September 4, 2007
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patientsM De Gregori, R Ciccone, P Magini, et al.
JACC. Basic to Translational Science|March 25, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic CardiomyopathyCordula M Wolf, Martin Zenker, Olga Boleti, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
European Journal of Human Genetics : EJHG|March 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individualsQuentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
Pageof 10

Showing results (91-100 of 97) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 97 results.
HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
Clinical Genetics|March 16, 2017
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genesE Di Gregorio, E Riberi, E F Belligni, et al.
Journal of Medical Genetics|September 4, 2007
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patientsM De Gregori, R Ciccone, P Magini, et al.
JACC. Basic to Translational Science|March 25, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic CardiomyopathyCordula M Wolf, Martin Zenker, Olga Boleti, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
European Journal of Human Genetics : EJHG|March 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individualsQuentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
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