E-LIB Suche - Ergebnisse für: Ammous, Zineb

1

Pathogenic variants in SLF2 and SMC5 cause segmented chromo..:

Grange, Laura J ; Reynolds, John J ; Ullah, Farid...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636423/. , 2022

2

Pathogenic variants in SLF2 and SMC5 cause segmented chromo..:

Grange, Laura J ; Reynolds, John J ; Ullah, Farid...
https://publications.aston.ac.uk/id/eprint/45210/1/L_J_Grange_J_J_Reynolds_et_al_Pathogenic_variants_in_SLF2_and_SMC5_cause_segmented_chromosomes_and_mosaic_variegated_hyperploidy.pdf. , 2022

Link: https://publications.ast..

3

Natural history of propionic acidemia in the Amish populati..:

Ehrenberg, Sarah ; Walsh Vockley, Catherine ; Heiman, Paige...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9647228/. , 2022

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

4

Cholbam® and Zellweger spectrum disorders: treatment implem..:

Anderson, Janaina Nogueira ; Ammous, Zineb ; Eroglu, Yasemen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8439061/. , 2021

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

5

RSRC1 loss-of-function variants cause mild to moderate auto..:

Scala, Marcello ; Mojarrad, Majid ; Riazuddin, Saima...
Brain. , 2020

Link: http://hdl.handle.net/10..

6

Bi-allelic CCDC47 Variants Cause a Disorder Characterized b..:

Morimoto, Marie ; Waller-Evans, Helen ; Ammous, Zineb...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603/. , 2018

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

7

P119: Molecular basis of adducted thumbs syndrome in the Ol..:

Nicole Bertsch ; Zineb Ammous ; Erik Puffenberger.
http://www.sciencedirect.com/science/article/pii/S2949774423001486. , 2023

Link: https://doi.org/10.1016/..

8

Natural history of propionic acidemia in the Amish populati..:

Sarah Ehrenberg ; Catherine Walsh Vockley ; Paige Heiman...
http://www.sciencedirect.com/science/article/pii/S2214426922000969. , 2022

Link: https://doi.org/10.1016/..

9

Pathogenic variants in SLF2 and SMC5 cause segmented chromo..:

Laura J. Grange ; John J. Reynolds ; Farid Ullah...
https://doi.org/10.1038/s41467-022-34349-8. , 2022

Link: https://doi.org/10.1038/..

10

A biallelic SNIP1 Amish founder variant causes a recognizab..:

Zineb Ammous ; Lettie E Rawlins ; Hannah Jones...
https://doi.org/10.1371/journal.pgen.1009803. , 2021

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

11

Cholbam® and Zellweger spectrum disorders: treatment implem..:

Janaina Nogueira Anderson ; Zineb Ammous ; Yasemen Eroglu...
https://doi.org/10.1186/s13023-021-01940-z. , 2021

Link: https://doi.org/10.1186/..

12

PRKAG2 mutation: An easily missed cardiac specific non-lyso..:

Varun Aggarwal ; Nancy Dobrolet ; Steven Fishberger...
http://www.annalspc.com/article.asp?issn=0974-2069;year=2015;volume=8;issue=2;spage=153;epage=156;aulast=Aggarwal. , 2015

Link: https://doi.org/10.4103/..

13

Differentially expressed (both up/downregulated) gene pathw..:

Zineb Ammous (11486051) ; Lettie E. Rawlins (11486054) ; Hannah Jones (475975)...
https://figshare.com/articles/dataset/Differentially_expressed_both_up_downregulated_gene_pathways_from_Reactome_overrepresentation_analysis_of_significantly_up_downregulated_genes_in_six_affected_individuals_compared_with_sex-matched_controls_and_a_i_log_fold_change_i_1_5_were/16688675. , 2021

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

14

Clinical features of 35 individuals with SNIP1 -related dis..:

Zineb Ammous (11486051) ; Lettie E. Rawlins (11486054) ; Hannah Jones (475975)...
https://figshare.com/articles/dataset/Clinical_features_of_35_individuals_with_i_SNIP1_i_-related_disorder_/16688681. , 2021

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

15

Heatmap showing tissue expression levels of the top 50 gene..:

Zineb Ammous (11486051) ; Lettie E. Rawlins (11486054) ; Hannah Jones (475975)...
https://figshare.com/articles/journal_contribution/Heatmap_showing_tissue_expression_levels_of_the_top_50_genes_with_upregulated_expression_in_individuals_with_i_SNIP1_i_-related_disorder_/16688663. , 2021

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