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International Journal of Molecular Sciences
|
February 9, 2020
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
Ana Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, et al.
Clinical Genetics
|
October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder
Nina 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 Syndrome
María E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
Plos One
|
January 8, 2020
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice
Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, et al.
The Journal of Biological Chemistry
|
May 15, 2003
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase
Núria Casals, Paulino Gómez-Puertas, Juan Pié, et al.
The Journal of Experimental Medicine
|
October 23, 2013
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
Elin Enervald, Likun Du, Torkild Visnes, et al.
International Journal of Molecular Sciences
|
June 12, 2014
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome
María E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
European Journal of Medical Genetics
|
May 31, 2014
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, María Hernández-Marcos, et al.
Cell Reports
|
May 21, 2020
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
Ilaria Parenti, Farah Diab, Sara Ruiz Gil, et al.
Human Mutation
|
January 30, 2009
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria
Sebastián Menao, Eduardo López-Viñas, Cecilia Mir, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 47) with videos related to
Sort By:
Page
of 5
International Journal of Molecular Sciences
|
February 9, 2020
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
Ana Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, et al.
Clinical Genetics
|
October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder
Nina 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 Syndrome
María E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
Plos One
|
January 8, 2020
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice
Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, et al.
The Journal of Biological Chemistry
|
May 15, 2003
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase
Núria Casals, Paulino Gómez-Puertas, Juan Pié, et al.
The Journal of Experimental Medicine
|
October 23, 2013
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
Elin Enervald, Likun Du, Torkild Visnes, et al.
International Journal of Molecular Sciences
|
June 12, 2014
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome
María E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
European Journal of Medical Genetics
|
May 31, 2014
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, María Hernández-Marcos, et al.
Cell Reports
|
May 21, 2020
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
Ilaria Parenti, Farah Diab, Sara Ruiz Gil, et al.
Human Mutation
|
January 30, 2009
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria
Sebastián Menao, Eduardo López-Viñas, Cecilia Mir, et al.
Page
of 5