E-LIB Suche - Ergebnisse für: Villanueva, Adda L.

1

Deciphering the genetic architecture and ethnographic distr..:

Biswas, Pooja ; Villanueva, Adda L. ; Soto-Hermida, Angel...
PLOS Genetics. 17 (2021) 10 - p. e1009848 , 2021

Link: https://doi.org/10.1371/..

2

Deciphering the genetic architecture and ethnographic distr..:

Biswas, Pooja ; Villanueva, Adda L ; Soto-Hermida, Angel...
qt8tq9x6bw. , 2021

Link: https://escholarship.org..

3

Identification of the genetic determinants responsible for ..:

Villanueva, Adda ; Biswas, Pooja ; Kishaba, Kameron...
qt11v341gf. , 2018

Link: https://escholarship.org..

4

Identification of the genetic determinants responsible for ..:

Villanueva, Adda ; Biswas, Pooja ; Kishaba, Kameron...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143363/. , 2017

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

5

Whole exome sequencing of a dominant retinitis pigmentosa f..:

Villanueva, Adda ; Willer, Jason R ; Bryois, Julien...
info:eu-repo/semantics/altIdentifier/doi/10.1167/iovs.13-13827. , 2014

Link: https://archive-ouverte...

6

Whole Exome Sequencing of a Dominant Retinitis Pigmentosa F..:

Villanueva, Adda ; Willer, Jason R ; Bryois, Julien...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

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

7

Deciphering the genetic architecture and ethnographic distr..:

Pooja Biswas ; Adda L Villanueva ; Angel Soto-Hermida...
https://doi.org/10.1371/journal.pgen.1009848. , 2021

Link: https://doi.org/10.1371/..

8

Summary of findings and population distribution of mutation..:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/dataset/Summary_of_findings_and_population_distribution_of_mutations_detected_in_three_major_cohorts_analyzed_/16828103. , 2021

Link: https://doi.org/10.1371/..

9

Segregation analysis of pedigrees with atypical genotypes:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/figure/Segregation_analysis_of_pedigrees_with_atypical_genotypes_/16828046. , 2021

Link: https://doi.org/10.1371/..

10

Pedigrees with previously reported mutations:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/figure/Pedigrees_with_previously_reported_mutations_/16828034. , 2021

Link: https://doi.org/10.1371/..

11

Pedigrees with novel mutations:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/figure/Pedigrees_with_novel_mutations_/16828025. , 2021

Link: https://doi.org/10.1371/..

12

Haplotype of parents and the proband constructed with varia..:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/figure/Haplotype_of_parents_and_the_proband_constructed_with_variants_flanking_the_de-novo_variant_detected_in_the_i_IMPDH1_i_gene_in_RF_VI13_0707_pedigree_/16828055. , 2021

Link: https://doi.org/10.1371/..

13

Clinical diagnosis of all pedigrees:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/dataset/Clinical_diagnosis_of_all_pedigrees_/16828019. , 2021

Link: https://doi.org/10.1371/..

14

Clinical findings of patients with atypical genotypes:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/figure/Clinical_findings_of_patients_with_atypical_genotypes_/16828010. , 2021

Link: https://doi.org/10.1371/..

15

Pedigrees with atypical genotypes in IRD genes:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/dataset/Pedigrees_with_atypical_genotypes_in_IRD_genes_/16828097. , 2021

Link: https://doi.org/10.1371/..