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Kinsley, Lisa
33
results:
Search for persons
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Online (33)
Mediatypes
Articles (Online) (18)
OpenAccess-fulltext (15)
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1
De novo FRMD5 Missense Variants in Patients with Childhood‐..:
Keller Sarmiento, Ignacio J.
;
Bustos, Bernabe I.
;
Blackburn, Joanna
...
Movement Disorders. 39 (2024) 7 - p. 1231-1236 , 2024
Link:
https://doi.org/10.1002/..
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2
A GNAI1 Pathogenic Variant in a Case with GNAO1‐Isolated Dy..:
Monje, Mariana H.G.
;
Blackburn, Joanna Sarah
;
Kinsley, Lisa
..
Movement Disorders. 39 (2024) 5 - p. 918-920 , 2024
Link:
https://doi.org/10.1002/..
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3
mTORC1 functional assay reveals SZT2 loss-of-function varia..:
Calhoun, Jeffrey D
;
Aziz, Miriam C
;
Happ, Hannah C
...
Brain. 145 (2022) 6 - p. 1939-1948 , 2022
Link:
https://doi.org/10.1093/..
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4
Expanding the spectrum of KCNJ6‐related disorders: Milder p..:
van Midden, Vesna Marija
;
Kinsley, Lisa
;
Fraint, Avram
..
Clinical Genetics. 103 (2022) 1 - p. 103-108 , 2022
Link:
https://doi.org/10.1111/..
?
5
Novel bi-allelic FBXO7 variants in a family with early-onse..:
Keller Sarmiento, Ignacio J.
;
Afshari, Mitra
;
Kinsley, Lisa
...
Parkinsonism & Related Disorders. 104 (2022) - p. 88-90 , 2022
Link:
https://doi.org/10.1016/..
?
6
Novel THAP1 missense variant with incomplete penetrance in ..:
Keller Sarmiento, Ignacio J.
;
Fraint, Avram
;
Kinsley, Lisa
...
Parkinsonism & Related Disorders. 105 (2022) - p. 7-8 , 2022
Link:
https://doi.org/10.1016/..
?
7
Joubert's Syndrome with dystonic-ataxic tremor: a novel phe..:
Larson, Danielle
;
Kinsley, Lisa
;
Blackburn, Joanna
.
Neurology. 94 (2020) 15_supplement - p. , 2020
Link:
https://doi.org/10.1212/..
?
8
CACNA1Hvariants are not a cause of monogenic epilepsy:
Calhoun, Jeffrey D.
;
Huffman, Alexandra M.
;
Bellinski, Irena
...
Human Mutation. 41 (2020) 6 - p. 1138-1144 , 2020
Link:
https://doi.org/10.1002/..
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9
Novel Mutation of NUS1 Gene Presenting With Developmental a..:
Prakash, Neha
;
Zadikoff, Cindy
;
Kinsley, Lisa
...
Neurology. 92 (2019) 15_supplement - p. , 2019
Link:
https://doi.org/10.1212/..
?
10
The Impact of Family History on the Clinical Features of Hu..:
Bega, Danny
;
Kringlen, Gabriel
;
Kinsley, Lisa
..
Neurology. 90 (2018) 15_supplement - p. , 2018
Link:
https://doi.org/10.1212/..
?
11
Atypical Electropherogram Patterns are Observed Among C9orf..:
Lowry, Jessica
;
Yan, Jianhua
;
Feiz, Farnoosh
...
Neurology. 86 (2016) 16_supplement - p. , 2016
Link:
https://doi.org/10.1212/..
?
12
Exploring genetic counselors' practice of discussing clinic..:
Bloom, Thea
;
Bonini, Katherine E.
;
Gutierrez‐Kapheim, Melissa
...
Journal of Genetic Counseling. , 2024
Link:
https://doi.org/10.1002/..
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13
Identification of Candidates for Genetic Testing in the Adu..:
Brea, Jannis R.
;
Bellinski, Irena I.
;
Bachman, Elizabeth M.
...
Neurology. 94 (2020) 15_supplement - p. , 2020
Link:
https://doi.org/10.1212/..
?
14
Evaluation of Mitochondrial Function in CHCHD10 Mutation (P..:
Yan, Jianhua
;
Ahmeti, Kreshnik
;
Siddique, Nailah
...
Neurology. 86 (2016) 16_supplement - p. , 2016
Link:
https://doi.org/10.1212/..
?
15
Expanding the spectrum of KCNJ6‐related disorders: Milder p..:
van Midden, Vesna Marija
;
Kinsley, Lisa
;
Fraint, Avram
..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087234/. , 2022
Link:
http://www.ncbi.nlm.nih...
1-15