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Gil‐Rodríguez, María Concepción
58  results:
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1

Mutations and variants in the cohesion factor genes NIPBL, ..:

Pié, Juan ; Gil‐Rodríguez, María Concepción ; Ciero, Milagros...
American Journal of Medical Genetics Part A.  152A (2010)  4 - p. 924-929 , 2010
Link: https://doi.org/10.1002/..
 
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2

Comparison of several Real-Time PCR Kits versus a Culture-d..:

Valledor, Silvia ; Valledor, Inés ; Gil-Rodríguez, María Concepción..
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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3

Two-step ATP-driven opening of cohesin head:

Marcos-Alcalde, Íñigo ; Mendieta-Moreno, Jesús I. ; Puisac, Beatriz...
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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4

New case of mitochondrial HMG-CoA synthase deficiency. Func..:

Ramos, Mónica ; Menao, Sebastián ; Arnedo, María...
European Journal of Medical Genetics.  56 (2013)  8 - p. 411-415 , 2013
Link: https://doi.org/10.1016/..
 
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5

Analysis of aberrant splicing and nonsense-mediated decay o..:

Puisac, Beatriz ; Teresa-Rodrigo, María Esperanza ; Arnedo, María...
Molecular Genetics and Metabolism.  108 (2013)  4 - p. 232-240 , 2013
Link: https://doi.org/10.1016/..
 
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6

Cornelia de Lange syndrome with NIPBL mutation and mosaic T..:

Wierzba, Jolanta ; Gil-Rodríguez, María Concepción ; Polucha, Anna...
BMC Medical Genetics.  13 (2012)  1 - p. , 2012
Link: https://doi.org/10.1186/..
 
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7

Characterization of splice variants of the genes encoding h..:

Puisac, Beatriz ; Ramos, Mónica ; Arnedo, María...
Molecular Biology Reports.  39 (2011)  4 - p. 4777-4785 , 2011
Link: https://doi.org/10.1007/..
 
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8

mRNA Quantification of NIPBL Isoforms A and B in Adult and ..:

Puisac, Beatriz ; Teresa-Rodrigo, María-Esperanza ; Hernández-Marcos, María...
International Journal of Molecular Sciences.  18 (2017)  3 - p. 481 , 2017
Link: https://doi.org/10.3390/..
 
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9

Severe ipsilateral musculoskeletal involvement in a Corneli..:

Baquero-Montoya, Carolina ; Gil-Rodríguez, María-Concepción ; Hernández-Marcos, María...
European Journal of Medical Genetics.  57 (2014)  9 - p. 503-509 , 2014
Link: https://doi.org/10.1016/..
 
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10

Loss-of-function HDAC8 mutations cause a phenotypic spectru..:

Kaiser, Frank J. ; Ansari, Morad ; Braunholz, Diana...
Human Molecular Genetics.  23 (2014)  11 - p. 2888-2900 , 2014
Link: https://doi.org/10.1093/..
 
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11

mRNA Quantification of NIPBL Isoforms A and B in Adult and ..:

Beatriz Puisac ; María-Esperanza Teresa-Rodrigo ; María Hernández-Marcos...
Biochemistry.  , 2017
Link: https://doi.org/10.3390/..
 
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12

mRNA Quantification of NIPBL Isoforms A and B in Adult and ..:

Beatriz Puisac ; María-Esperanza Teresa-Rodrigo ; María Hernández-Marcos...
http://www.mdpi.com/1422-0067/18/3/481.  , 2017
Link: https://doi.org/10.3390/..
 
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13

Comparison of several Real-Time PCR kits versus a culture-d..:

Valledor, Silvia ; Valledor, Inés ; Gil-Rodríguez, María Concepción..
http://zaguan.unizar.es/record/88306.  , 2020
Link: http://zaguan.unizar.es/..
 
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14

Two-step ATP-driven opening of cohesin head:

Íñigo Marcos-Alcalde ; Jesús I. Mendieta-Moreno ; Beatriz Puisac...
https://doi.org/10.1038/s41598-017-03118-9.  , 2017
Link: https://doi.org/10.1038/..
 
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15

mRNA Quantification of NIPBL Isoforms A and B in Adult and ..:

Puisac, Beatriz ; Teresa-Rodrigo, María-Esperanza ; Hernández-Marcos, María...
Publisher's versión.  , 2017
Link: http://hdl.handle.net/10..
 
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