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Guatibonza Moreno, Pilar
17  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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..
 
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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..
 
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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..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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..
 
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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/..
 
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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/..
 
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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/..
 
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