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The Journal of Clinical Endocrinology and Metabolism
|
October 11, 2013
The IGSF1 deficiency syndrome: characteristics of male and female patients
S D Joustra, N Schoenmakers, L Persani, et al.
International Journal of Molecular Sciences
|
November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser Syndrome
Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
HGG Advances
|
April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
Liselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
European Journal of Human Genetics : EJHG
|
October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
Liselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Eline A Verberne, Shuxiang Goh, Jade England, et al.
HGG Advances
|
November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
European Journal of Medical Genetics
|
March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
Saskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Richard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, 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 syndromes
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
HGG Advances
|
January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Michael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
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Search research articles
Search
Showing results (161-170 of 172) with videos related to
Sort By:
Page
of 18
The Journal of Clinical Endocrinology and Metabolism
|
October 11, 2013
The IGSF1 deficiency syndrome: characteristics of male and female patients
S D Joustra, N Schoenmakers, L Persani, et al.
International Journal of Molecular Sciences
|
November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser Syndrome
Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
HGG Advances
|
April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
Liselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
European Journal of Human Genetics : EJHG
|
October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
Liselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Eline A Verberne, Shuxiang Goh, Jade England, et al.
HGG Advances
|
November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
European Journal of Medical Genetics
|
March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
Saskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Richard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, 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 syndromes
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
HGG Advances
|
January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Michael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
Page
of 18