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McNiven, Vanda
30
results:
Search for persons
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Online (30)
Mediatypes
Articles (Online) (19)
OpenAccess-fulltext (11)
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1
P740: DMD or not DMD? Clinical genome sequencing in the int..:
Higginbotham, Edward
;
Lau, Lynette
;
Thiruvahindrapuram, Bhooma
...
Genetics in Medicine Open. 2 (2024) - p. 101644 , 2024
Link:
https://doi.org/10.1016/..
?
2
P290: Neonatal encephalopathy: Identification of underlying..:
Ambrose, Anastasia
;
McNiven, Vanda
;
Wilson, Diane
...
Genetics in Medicine Open. 2 (2024) - p. 101186 , 2024
Link:
https://doi.org/10.1016/..
?
3
P388: Noonan syndrome associated with a homozygous deep int..:
Dupuis, Lucie
;
Szuto, Anna
;
Marshall, Christian
...
Genetics in Medicine Open. 2 (2024) - p. 101282 , 2024
Link:
https://doi.org/10.1016/..
?
4
Expanding the phenotypic spectrum of NOTCH1 variants: clini..:
Stanley, Kaitlin J.
;
Kalbfleisch, Kelsey J.
;
Moran, Olivia M.
...
European Journal of Human Genetics. 32 (2024) 7 - p. 795-803 , 2024
Link:
https://doi.org/10.1038/..
?
5
Dystonia with myoclonus and vertical supranuclear gaze pals..:
Reyes, Nikolai Gil D.
;
Di Luca, Daniel G.
;
McNiven, Vanda
.
Parkinsonism & Related Disorders. 106 (2023) - p. 105239 , 2023
Link:
https://doi.org/10.1016/..
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6
Isolated Dystonia as an Initial Presentation of GDAP2‐Relat..:
Di Luca, Daniel G.
;
Wubuli, Dilinuer
;
McNiven, Vanda
.
Movement Disorders Clinical Practice. 10 (2023) 4 - p. 710-712 , 2023
Link:
https://doi.org/10.1002/..
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7
Dystonia with myoclonus and vertical supranuclear gaze pals..:
Reyes, Nikolai Gil
;
Di Luca, Daniel Garbin
;
McNiven, Vanda
.
Neurology. 100 (2023) 17_supplement_2 - p. , 2023
Link:
https://doi.org/10.1212/..
?
8
The Clinician-reported Genetic testing Utility InDEx (C-GUI..:
Hayeems, Robin Z.
;
Luca, Stephanie
;
Ungar, Wendy J.
...
Genetics in Medicine. 24 (2022) 2 - p. 430-438 , 2022
Link:
https://doi.org/10.1016/..
?
9
Bridging clinical care and research in Ontario, Canada: Max..:
Hartley, Taila
;
Soubry, Élisabeth
;
Acker, Meryl
...
Clinical Genetics. 103 (2022) 3 - p. 288-300 , 2022
Link:
https://doi.org/10.1111/..
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10
PURA syndrome: neuromuscular junction manifestations with p..:
Qashqari, Hebah
;
McNiven, Vanda
;
Gonorazky, Hernan
...
Neuromuscular Disorders. 32 (2022) 10 - p. 842-844 , 2022
Link:
https://doi.org/10.1016/..
?
11
An HNRNPK-specific DNA methylation signature makes sense of..:
Choufani, Sanaa
;
McNiven, Vanda
;
Cytrynbaum, Cheryl
...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1867-1884 , 2022
Link:
https://doi.org/10.1016/..
?
12
SCYL1 disease and liver transplantation diagnosed by reanal..:
McNiven, Vanda
;
Gattini, Daniela
;
Siddiqui, Iram
...
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1091-1097 , 2021
Link:
https://doi.org/10.1002/..
?
13
The Nose Knows… or Does it? Olfactory Reference Syndrome in..:
McNiven, Vanda
;
Mamane, Sarah
;
Zai, Gwyneth
.
Journal of Nervous & Mental Disease. 207 (2019) 3 - p. 145-151 , 2019
Link:
https://doi.org/10.1097/..
?
14
NID1 variant associated with occipital cephaloceles in a fa..:
McNiven, Vanda
;
Ito, Yoko A.
;
Hartley, Taila
...
American Journal of Medical Genetics Part A. 179 (2019) 5 - p. 837-841 , 2019
Link:
https://doi.org/10.1002/..
?
15
Atypical Rett Syndrome and Intractable Epilepsy With Novel ..:
Kyriakopoulos, Paulina
;
McNiven, Vanda
;
Carter, Melissa T.
...
Child Neurology Open. 5 (2018) - p. 2329048X1878794 , 2018
Link:
https://doi.org/10.1177/..
1-15