E-LIB Suche - Ergebnisse für: Guatibonza Moreno, Pilar

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 6..:

Guatibonza Moreno, Pilar ; Pardo, Luba M ; Pereira, Catarina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545733/. , 2023

Link: http://www.ncbi.nlm.nih...

6

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sial..:

Ali Alghamdi, Malak ; Benabdelkamel, Hicham ; Masood, Afshan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259880/. , 2022

Link: http://www.ncbi.nlm.nih...

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

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/..

9

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/..

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

Whole Exome Sequencing in a Series of Patients with a Clini..:

Kovesdi, Erzsebet ; Ripszam, Reka ; Postyeni, Etelka...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471884/. , 2021

Link: http://www.ncbi.nlm.nih...

13

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..

14

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/..

15

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/..