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Guatibonza Moreno, Pilar
17
results:
Search for persons
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Format
Online (17)
Mediatypes
Articles (Online) (9)
OpenAccess-fulltext (8)
Languages
english (12)
spanish (1)
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?
1
At a glance: the largest Niemann-Pick type C1 cohort with 6..:
Guatibonza Moreno, Pilar
;
Pardo, Luba M.
;
Pereira, Catarina
...
European Journal of Human Genetics. 31 (2023) 10 - p. 1108-1116 , 2023
Link:
https://doi.org/10.1038/..
?
2
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sial..:
Ali Alghamdi, Malak
;
Benabdelkamel, Hicham
;
Masood, Afshan
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
3
At a glance: The largest Niemann-Pick type C1 cohort with 6..:
Bauer, Peter
;
Pardo, Luba M.
;
Moreno, Pilar Guatibonza
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107025 , 2023
Link:
https://doi.org/10.1016/..
?
4
Whole Exome Sequencing in a Series of Patients with a Clini..:
Kovesdi, Erzsebet
;
Ripszam, Reka
;
Postyeni, Etelka
...
Genes. 12 (2021) 9 - p. 1401 , 2021
Link:
https://doi.org/10.3390/..
?
5
At a glance:the largest Niemann-Pick type C1 cohort with 60..:
Guatibonza Moreno, Pilar
;
Pardo, Luba M
;
Pereira, Catarina
...
https://pure.eur.nl/en/publications/a4cfbcf2-a658-446a-9bba-7ae9661d5ddd. , 2023
Link:
https://pure.eur.nl/en/p..
?
6
At a glance:the largest Niemann-Pick type C1 cohort with 60..:
Guatibonza Moreno, Pilar
;
Pardo, Luba M
;
Pereira, Catarina
...
https://pure.eur.nl/en/publications/a4cfbcf2-a658-446a-9bba-7ae9661d5ddd. , 2023
Link:
https://pure.eur.nl/en/p..
?
7
Actualidad de la enfermedad renal poliquística ; Polycystic..:
Guatibonza Moreno, Yeinny Pilar
https://revistas.javeriana.edu.co/index.php/vnimedica/article/view/16179. , 2012
Link:
http://hdl.handle.net/10..
?
8
DataSheet1_Genomic, Proteomic, and Phenotypic Spectrum of N..:
Malak Ali Alghamdi
;
Hicham Benabdelkamel
;
Afshan Masood
...
doi:10.3389/fgene.2022.806190.s001. , 2022
Link:
https://doi.org/10.3389/..
?
9
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sial..:
Malak Ali Alghamdi
;
Hicham Benabdelkamel
;
Afshan Masood
...
https://www.frontiersin.org/articles/10.3389/fgene.2022.806190/full. , 2022
Link:
https://doi.org/10.3389/..
?
10
Whole Exome Sequencing in a Series of Patients with a Clini..:
Erzsebet Kovesdi
;
Reka Ripszam
;
Etelka Postyeni
...
https://www.mdpi.com/2073-4425/12/9/1401. , 2021
Link:
https://doi.org/10.3390/..
?
11
Whole Exome Sequencing in a Series of Patients with a Clini..:
Erzsebet Kovesdi
;
Reka Ripszam
;
Etelka Postyeni
...
Human Genomics and Genetic Diseases. , 2021
Link:
https://doi.org/10.3390/..
?
12
An integrated multiomic approach as an excellent tool for t..:
Almeida, Ligia S
;
Pereira, Catarina
;
Aanicai, Ruxandra
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-022-01119-5. , 2022
Link:
https://repository.vu.lt..
?
13
Global birth defects app: An innovative tool for describing..:
Dolk, Helen
;
Leke, Aminkeng Zawuo
;
Whitfield, Phil
...
Birth Defects Research. 113 (2021) 14 - p. 1057-1073 , 2021
Link:
https://doi.org/10.1002/..
?
14
Successful application of genome sequencing in a diagnostic..:
Bertoli-Avella, Aida M.
;
Beetz, Christian
;
Ameziane, Najim
...
European Journal of Human Genetics. 29 (2020) 1 - p. 141-153 , 2020
Link:
https://doi.org/10.1038/..
?
15
Spectrum of GBA mutations in a group of Colombian families ..:
Suarez-Obando, Fernando
;
Guatibonza, Pilar
;
Zarante, Ana
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S137 , 2018
Link:
https://doi.org/10.1016/..
1-15