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Alderman, Emily
40
results:
Search for persons
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Format
Online (40)
Mediatypes
Articles (Online) (19)
OpenAccess-fulltext (21)
Sorted by: Relevance
Sorted by: Year
?
1
Bi-allelic ATG4D variants are associated with a neurodevelo..:
Morimoto, Marie
;
Bhambhani, Vikas
;
Gazzaz, Nour
...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
2
The practice of genomic medicine: A delineation of the proc..:
Handra, Julia
;
Elbert, Adrienne
;
Gazzaz, Nour
...
Frontiers in Medicine. 9 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
3
Can leaky splicing and evasion of premature termination cod..:
Chin, Hui-Lin
;
Lin, Susan
;
Dalmann, Joshua
...
European Journal of Medical Genetics. 65 (2022) 3 - p. 104427 , 2022
Link:
https://doi.org/10.1016/..
?
4
Genome-wide sequencing and the clinical diagnosis of geneti..:
Elliott, Alison M.
;
Adam, Shelin
;
du Souich, Christèle
...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100108 , 2022
Link:
https://doi.org/10.1016/..
?
5
Can tandem alternative splicing and evasion of premature te..:
Gazzaz, Nour
;
Frost, F. Graeme
;
Alderman, Emily
...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3089-3095 , 2022
Link:
https://doi.org/10.1002/..
?
6
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable..:
Fischer-Zirnsak, Björn
;
Segebrecht, Lara
;
Schubach, Max
...
The American Journal of Human Genetics. 105 (2019) 3 - p. 631-639 , 2019
Link:
https://doi.org/10.1016/..
?
7
The practice of genomic medicine: A delineation of the proc..:
Handra, Julia
;
Elbert, Adrienne
;
Gazzaz, Nour
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9877428/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
8
Bi-allelic ATG4D variants are associated with a neurodevelo..:
Morimoto, Marie
;
Bhambhani, Vikas
;
Gazzaz, Nour
...
qt1g6176gn. , 2023
Link:
https://escholarship.org..
?
9
Bi-allelic ATG4D variants are associated with a neurodevelo..:
Morimoto, Marie
;
Bhambhani, Vikas
;
Gazzaz, Nour
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918471/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
10
Genome-wide sequencing and the clinical diagnosis of geneti..:
Elliott, Alison M
;
Adam, Shelin
;
du Souich, Christèle
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117924/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
11
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable..:
Fischer-Zirnsak, Björn
;
Segebrecht, Lara
;
Schubach, Max
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731356/. , 2019
Link:
http://www.ncbi.nlm.nih...
?
12
Data_Sheet_1_The practice of genomic medicine: A delineatio..:
Julia Handra
;
Adrienne Elbert
;
Nour Gazzaz
...
doi:10.3389/fmed.2022.1071348.s001. , 2023
Link:
https://doi.org/10.3389/..
?
13
Bi-allelic ATG4D variants are associated with a neurodevelo..:
Marie Morimoto
;
Vikas Bhambhani
;
Nour Gazzaz
...
https://doi.org/10.1038/s41525-022-00343-8. , 2023
Link:
https://doi.org/10.1038/..
?
14
The practice of genomic medicine: A delineation of the proc..:
Julia Handra
;
Adrienne Elbert
;
Nour Gazzaz
...
https://www.frontiersin.org/articles/10.3389/fmed.2022.1071348/full. , 2023
Link:
https://doi.org/10.3389/..
?
15
Genome-wide sequencing and the clinical diagnosis of geneti..:
Alison M. Elliott
;
Shelin Adam
;
Christèle du Souich
...
http://www.sciencedirect.com/science/article/pii/S2666247722000240. , 2022
Link:
https://doi.org/10.1016/..
1-15