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Walley, Nicole
86
results:
Search for persons
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Online (86)
Mediatypes
Articles (Online) (29)
Bookchapter (Online) (2)
OpenAccess-fulltext (55)
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?
1
The book is just being written: The enduring journey of par..:
Stafford‐Smith, Bethany
;
Sullivan, Jennifer A.
;
McAllister, Marion
...
Journal of Genetic Counseling. , 2024
Link:
https://doi.org/10.1002/..
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2
The best of both worlds: Blending cutting‐edge research wit..:
Sullivan, Jennifer A.
;
Spillmann, Rebecca C.
;
Schoch, Kelly
...
Clinical Genetics. 105 (2023) 1 - p. 62-71 , 2023
Link:
https://doi.org/10.1111/..
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3
P295: Episodic irritability in an ultra-rare genetic disord..:
Schoch, Kelly
;
McConkie-Rosell, Allyn
;
Walley, Nicole
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100323 , 2023
Link:
https://doi.org/10.1016/..
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4
Parental perspectives of episodic irritability in an ultra-..:
Schoch, Kelly
;
McConkie-Rosell, Allyn
;
Walley, Nicole
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
5
Unraveling non‐participation in genomic research: A complex..:
McConkie‐Rosell, Allyn
;
Spillmann, Rebecca C.
;
Schoch, Kelly
...
Journal of Genetic Counseling. 32 (2023) 5 - p. 993-1008 , 2023
Link:
https://doi.org/10.1002/..
?
6
A recurrent single‐exon deletion inTBCKmight be under‐recog..:
Dai, Hongzheng
;
Zhu, Wenmiao
;
Yuan, Bo
...
Human Mutation. 43 (2022) 12 - p. 1816-1823 , 2022
Link:
https://doi.org/10.1002/..
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7
Clinical sites of the Undiagnosed Diseases Network: unique ..:
Schoch, Kelly
;
Esteves, Cecilia
;
Bican, Anna
...
Genetics in Medicine. 23 (2021) 2 - p. 259-271 , 2021
Link:
https://doi.org/10.1038/..
?
8
Detection of a mosaic CDKL5 deletion and inversion by optic..:
Cope, Heidi
;
Barseghyan, Hayk
;
Bhattacharya, Surajit
...
Molecular Genetics & Genomic Medicine. 9 (2021) 7 - p. , 2021
Link:
https://doi.org/10.1002/..
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9
Genomic and clinical predictors of lacosamide response in r..:
Heavin, Sinéad B.
;
McCormack, Mark
;
Wolking, Stefan
...
Epilepsia Open. 4 (2019) 4 - p. 563-571 , 2019
Link:
https://doi.org/10.1002/..
?
10
The genome empowerment scale: An assessment of parental emp..:
McConkie‐Rosell, Allyn
;
Schoch, Kelly
;
Sullivan, Jennifer
...
Clinical Genetics. 96 (2019) 6 - p. 521-531 , 2019
Link:
https://doi.org/10.1111/..
?
11
A comprehensive iterative approach is highly effective in d..:
Shashi, Vandana
;
Schoch, Kelly
;
Spillmann, Rebecca
...
Genetics in Medicine. 21 (2019) 1 - p. 161-172 , 2019
Link:
https://doi.org/10.1038/..
?
12
Looking beyond the exome: a phenotype-first approach to mol..:
Pena, Loren D.M.
;
Jiang, Yong-Hui
;
Schoch, Kelly
...
Genetics in Medicine. 20 (2018) 4 - p. 464-469 , 2018
Link:
https://doi.org/10.1038/..
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13
A window into living with an undiagnosed disease: illness n..:
Undiagnosed Diseases Network
;
Spillmann, Rebecca C.
;
McConkie-Rosell, Allyn
...
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/..
?
14
D-DEMO, A Novel and Distinct Phenotype Caused by ATP1A3 Mut..:
Prange, Lyndsey
;
Shashi, Vandana
;
Herman, Kristin
...
Neurology. 88 (2017) 16_supplement - p. , 2017
Link:
https://doi.org/10.1212/..
?
15
Genetic determinants of variable metabolism have little imp..:
Grossman, Iris
;
Sullivan, Patrick F.
;
Walley, Nicole
...
Genetics in Medicine. 10 (2008) 10 - p. 720-729 , 2008
Link:
https://doi.org/10.1097/..
1-15