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Ilaria Parenti

Showing results (11-20 of 40) with videos related to

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Cureus|May 2, 2024
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange SyndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
Plos Genetics|December 21, 2017
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer elementJessica Zuin, Valentina Casa, Jelena Pozojevic, et al.
Journal of Clinical Research in Pediatric Endocrinology|December 9, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange SyndromeÁngela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, et al.
International Journal of Molecular Sciences|February 9, 2020
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial PhenotypesAna Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, et al.
Iscience|January 6, 2026
STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodelingMacarena Moronta Gines, Marja W Wessels, Valentina Casa, et al.
Clinical Genetics|October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorderNina B Gold, Dong Li, Anna Chassevent, et al.
Biomed Research International|March 1, 2016
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange SyndromeMaría E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
American Journal of Medical Genetics. Part A|July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature ReviewSietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
Cell Reports|May 21, 2020
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange SyndromeIlaria Parenti, Farah Diab, Sara Ruiz Gil, et al.
American Journal of Medical Genetics. Part A|May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23William Burns, Lynne M Bird, Delphine Heron, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
Cureus|May 2, 2024
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange SyndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
Plos Genetics|December 21, 2017
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer elementJessica Zuin, Valentina Casa, Jelena Pozojevic, et al.
Journal of Clinical Research in Pediatric Endocrinology|December 9, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange SyndromeÁngela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, et al.
International Journal of Molecular Sciences|February 9, 2020
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial PhenotypesAna Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, et al.
Iscience|January 6, 2026
STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodelingMacarena Moronta Gines, Marja W Wessels, Valentina Casa, et al.
Clinical Genetics|October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorderNina B Gold, Dong Li, Anna Chassevent, et al.
Biomed Research International|March 1, 2016
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange SyndromeMaría E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
American Journal of Medical Genetics. Part A|July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature ReviewSietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
Cell Reports|May 21, 2020
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange SyndromeIlaria Parenti, Farah Diab, Sara Ruiz Gil, et al.
American Journal of Medical Genetics. Part A|May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23William Burns, Lynne M Bird, Delphine Heron, et al.
Pageof 4