E-LIB Suche - Ergebnisse für: Jeffrey L. Goldberg (9767388)

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

Pedigrees with copy number variations in IRD genes:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/dataset/Pedigrees_with_copy_number_variations_in_IRD_genes_/16828091. , 2021

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

10

Pedigrees with copy number variations (CNVs):

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/figure/Pedigrees_with_copy_number_variations_CNVs_/16828040. , 2021

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

11

Summary of findings and population distribution of novel mu..:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/figure/Summary_of_findings_and_population_distribution_of_novel_mutations_detected_/16828061. , 2021

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

12

Pedigrees with novel potentially causative variants in know..:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/dataset/Pedigrees_with_novel_potentially_causative_variants_in_known_IRD_genes_/16828076. , 2021

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

13

Pedigrees with previously reported mutations in IRD genes:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/dataset/Pedigrees_with_previously_reported_mutations_in_IRD_genes_/16828082. , 2021

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

14

Distribution of IRD genes detected in 61 pedigrees:

Pooja Biswas (793361) ; Adda L. Villanueva (11576984) ; Angel Soto-Hermida (658999)...
https://figshare.com/articles/figure/Distribution_of_IRD_genes_detected_in_61_pedigrees_/16828067. , 2021

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

15

Short-term Evaluation of Negative Pressure Applied by the M..:

Adis journals on behalf of (9622094) ; Jeffrey L. Goldberg (9767388) ; Jesus Jiminez-Roman (10355875)..
https://figshare.com/articles/media/Short-term_Evaluation_of_Negative_Pressure_Applied_by_the_Multi-Pressure_Dial_System_to_Lower_Nocturnal_IOP_A_Prospective_Controlled_Intra-subject_Study/14269835. , 2021

Link: https://doi.org/10.6084/..