Cornelia de Lange syndrome

By  

CLINICAL GENETICS, Vol. 88, Iss. 1, 2015-07 ,pp. : 1-12

John Wiley & Sons Inc

Access to resources Recommend Favorite

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

By Teresa-Rodrigo María E.   Eckhold Juliane   Puisac Beatriz   Dalski Andreas   Gil-Rodríguez María C.   Braunholz Diana   Baquero Carolina   Hernández-Marcos María   de Karam Juan C.   Ciero Milagros   Santos-Simarro Fernando   Lapunzina Pablo   Wierzba Jolanta   Casale César H.   Ramos Feliciano J.   Gillessen-Kaesbach Gabriele   Kaiser Frank J.   Pié Juan  

International Journal of Molecular Sciences, Vol. 15, Iss. 6, 2014-06 ,pp. : 10350-10364

MDPI

Access to resources Recommend Favorite

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

By  

HUMAN MUTATION, Vol. 36, Iss. 4, 2015-04 ,pp. : 454-462

John Wiley & Sons Inc

Access to resources Recommend Favorite

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

By Puisac Beatriz   Teresa-Rodrigo María-Esperanza   Hernández-Marcos María   Baquero-Montoya Carolina   Gil-Rodríguez María-Concepción   Visnes Torkild   Bot Christopher   Gómez-Puertas Paulino   Kaiser Frank J.   Ramos Feliciano J.   Ström Lena   Pié Juan  

International Journal of Molecular Sciences, Vol. 18, Iss. 3, 2017-02 ,pp. : 481-481

MDPI

Access to resources Recommend Favorite

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

By  

HUMAN MUTATION, Vol. 36, Iss. 2, 2015-02 ,pp. : 279-280

John Wiley & Sons Inc

Access to resources Recommend Favorite