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Beatriz Puisac

Showing results (41-50 of 47) with videos related to

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American Journal of Medical Genetics. Part A|April 2, 2010
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndromeJuan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, et al.
Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
Scientific Reports|July 30, 2021
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodAna Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.
Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.
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Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
American Journal of Medical Genetics. Part A|April 2, 2010
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndromeJuan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, et al.
Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
Scientific Reports|July 30, 2021
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodAna Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.
Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.
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