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Mala Misra

Showing results (11-20 of 16) with videos related to

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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.
American Journal of Medical Genetics. Part A|October 22, 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromesNuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
Brain : a Journal of Neurology|February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individualsJulie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
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Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
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.
American Journal of Medical Genetics. Part A|October 22, 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromesNuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
Brain : a Journal of Neurology|February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individualsJulie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
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