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Ammous, Zineb
24
results:
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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
Link:
http://www.ncbi.nlm.nih...
?
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..
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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/..
1-15