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1 . Academic Journal
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
저자
by
Ramos, Mónica
;
Menao, Sebastián
;
Arnedo, María
;
Puisac, Beatriz
;
Gil-Rodríguez, María Concepción
, et al.
소스
In
European Journal of Medical Genetics
August 2013 56(8):411-415
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7 . Academic Journal
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
저자
by
Baquero-Montoya, Carolina
;
Gil-Rodríguez, María-Concepción
;
Hernández-Marcos, María
;
Teresa-Rodrigo, María-Esperanza
;
Vicente-Gabas, Alicia
, et al.
소스
In
European Journal of Medical Genetics
September 2014 57(9):503-509
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7 . Academic Journal
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.
저자
by
Puisac, Beatriz
;
Marcos-Alcalde, Iñigo
;
Hernández-Marcos, María
;
Morlana, Pilar Tobajas
;
Levtova, Alina
, et al.
소스
International Journal of Molecular Sciences
. Apr2018, Vol. 19 Issue 4, p1010. 12p. 1 Diagram, 2 Charts, 2 Graphs.
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7 . Academic Journal
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
저자
by
Teresa-Rodrigo, María E.
;
Eckhold, Juliane
;
Puisac, Beatriz
;
Pozojevic, Jelena
;
Parenti, Ilaria
, et al.
소스
BioMed Research International
(BIOMED RES INT), 1/26/2016; 2016: 1-8. (8p)
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7 . Academic Journal
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.
저자
by
Puisac, Beatriz
;
Teresa-Rodrigo, María-Esperanza
;
Hernández-Marcos, María
;
Baquero-Montoya, Carolina
;
Gil-Rodríguez, María-Concepción
, et al.
소스
International Journal of Molecular Sciences
. Mar2017, Vol. 18 Issue 3, p481. 12p. 1 Chart, 2 Graphs.
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7 . Academic Journal
Special cases in Cornelia de Lange syndrome: The Spanish experience
저자
by
Pié, Juan
;
Puisac, Beatriz
;
Hernández-Marcos, Maria
;
Teresa-Rodrigo, Maria Esperanza
;
Gil-Rodríguez, Maria
, et al.
소스
American Journal Of Medical Genetics - C
. Jun 01, 2016 172(2):198-205
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7 . Academic Journal
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
저자
by
Gil-Rodríguez, María Concepción
;
Deardorff, Matthew A.
;
Ansari, Morad
;
Tan, Christopher A.
;
Parenti, Ilaria
, et al.
소스
Human Mutation
. Apr 01, 2015 36(4):454-462
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7 . Academic Journal
Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome.
저자
by
Teresa-Rodrigo, María E.
;
Eckhold, Juliane
;
Puisac, Beatriz
;
Dalski, Andreas
;
Gil-Rodríguez, María C.
, et al.
소스
International Journal of Molecular Sciences
. Jun2014, Vol. 15 Issue 6, p10350-10364. 15p. 2 Diagrams, 1 Chart.
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7 . Academic Journal
Two-step ATP-driven opening of cohesin head
저자
by
Marcos-Alcalde, Inigo
;
Mendieta-Moreno, Jesus I.
;
Puisac, Beatriz
;
Concepcion Gil-Rodriguez, Maria
;
Hernandez-Marcos, Maria
, et al.
소스
SCIENTIFIC REPORTS
; JUN 12 2017, 7 p3266 14p.
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