Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Journal of Clinical Research in Pediatric Endocrinology|July 18, 2022
Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase DeficiencyMark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, et al.
Clinical Obesity|April 10, 2024
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesityLotte Kleinendorst, Ozair Abawi, Niels Vos, et al.
Human Molecular Genetics|February 23, 2026
Multi-omics investigation of thyroid development and dysfunction in down syndromePeter Lauffer, Nitash Zwaveling-Soonawala, Andrew Y F Li Yim, et al.
American Journal of Medical Genetics. Part A|November 16, 2022
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationshipsPeter Lauffer, Gerard Pals, Aeilko H Zwinderman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2023
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorderKathleen Rooney, Liselot van der Laan, Slavica Trajkova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2023
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7Liselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser SyndromeLiselot 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 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Pageof 4