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1 . Academic Journal
STAG2: Computational Analysis of Missense Variants Involved in Disease
저자
by
David Ros-Pardo
;
Paulino Gómez-Puertas
;
Íñigo Marcos-Alcalde
.
소스
International Journal of Molecular Sciences, Vol 25, Iss 2, p 1280 (2024)
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5 . Academic Journal
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
저자
by
Ana Latorre-Pellicer
;
Marta Gil-Salvador
;
Ilaria Parenti
;
Cristina Lucia-Campos
;
Laura Trujillano
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
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7 . Academic Journal
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
저자
by
Juan L. García-Hernández
;
Luis A. Corchete
;
Íñigo Marcos-Alcalde
;
Paulino Gómez-Puertas
;
Carmen Fons
, et al.
소스
Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)
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7 . Academic Journal
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy
저자
by
Ana T. Marcos
;
Elena Martín‐Doncel
;
Patricia Morejón‐García
;
Iñigo Marcos‐Alcalde
;
Paulino Gómez‐Puertas
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 808-818 (2020)
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7 . Academic Journal
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
저자
by
Ana Latorre‐Pellicer
;
Ángela Ascaso
;
Cristina Lucia‐Campos
;
Marta Gil‐Salvador
;
María Arnedo
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
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7 . Academic Journal
Computational Modeling and Design of New Inhibitors of Carbapenemases: A Discussion from the EPIC Alliance Network
저자
by
Elias Dahdouh
;
Lisa Allander
;
Linda Falgenhauer
;
Bogdan I. Iorga
;
Stefano Lorenzetti
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9746 (2022)
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7 . Academic Journal
A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases
저자
by
Rubén M. Buey
;
David Fernández-Justel
;
Íñigo Marcos-Alcalde
;
Graeme Winter
;
Paulino Gómez-Puertas
, et al.
소스
Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
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7 . Academic Journal
Two-step ATP-driven opening of cohesin head
저자
by
Íñigo Marcos-Alcalde
;
Jesús I. Mendieta-Moreno
;
Beatriz Puisac
;
María Concepción Gil-Rodríguez
;
María Hernández-Marcos
, et al.
소스
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
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7 . Academic Journal
Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome
저자
by
Pedro A. Lazo
;
Juan L. García
;
Paulino Gómez-Puertas
;
Íñigo Marcos-Alcalde
;
Cesar Arjona
, et al.
소스
International Journal of Molecular Sciences, Vol 21, Iss 12, p 4447 (2020)
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7 . Academic Journal
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
저자
by
Ana Latorre-Pellicer
;
Ángela Ascaso
;
Laura Trujillano
;
Marta Gil-Salvador
;
Maria Arnedo
, et al.
소스
International Journal of Molecular Sciences, Vol 21, Iss 3, p 1042 (2020)
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