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Baquero-Montoya, Carolina
70  Ergebnisse:
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1

∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 p..:

Gardin, Antoine ; Ruiz, Mathias ; Beime, Jan...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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2

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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3

Mutations in chromatin regulators functionally link Corneli..:

Parenti, Ilaria ; Teresa-Rodrigo, María E. ; Pozojevic, Jelena...
Human Genetics.  136 (2017)  3 - p. 307-320 , 2017
Link: https://doi.org/10.1007/..
 
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4

Identification and Functional Characterization of Two Intro..:

Teresa-Rodrigo, María E. ; Eckhold, Juliane ; Puisac, Beatriz...
BioMed Research International.  2016 (2016)  - p. 1-8 , 2016
Link: https://doi.org/10.1155/..
 
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5

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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6

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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7

Guía colombiana para el diagnóstico de la deficiencia de li..:

Santamaría Escobar, Alfredo ; Baquero Montoya, Carolina ; García Bermejo, Roberto...
Revista Colombiana de Gastroenterología.  32 (2017)  4 - p. 358 , 2017
Link: https://doi.org/10.22516..
 
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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...
Publisher's versión.  , 2017
Link: http://hdl.handle.net/10..
 
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9

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

Puisac, Beatriz ; Teresa-Rodrigo, María-Esperanza ; Hernández-Marcos, María...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372497/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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10

Additional file 1 of ∆4-3-oxo-5β-reductase deficiency: favo..:

Antoine Gardin ; Mathias Ruiz ; Jan Beime...
doi:10.6084/m9.figshare.24770249.v1.  , 2023
Link: https://doi.org/10.6084/..
 
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11

∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 p..:

Antoine Gardin ; Mathias Ruiz ; Jan Beime...
https://doi.org/10.1186/s13023-023-02984-z.  , 2023
Link: https://doi.org/10.1186/..
 
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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

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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14

Identification and Functional Characterization of Two Intro..:

María E. Teresa-Rodrigo ; Juliane Eckhold ; Beatriz Puisac...
http://dx.doi.org/10.1155/2016/8742939.  , 2016
Link: https://doi.org/10.1155/..
 
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15

Espectro Cornelia de Lange: nuevas propuestas de correlacio..:

Baquero Montoya, Carolina
Colfuturo.  , 2015
Link: http://babel.banrepcultu..
 
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