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Hartill, Verity
24
results:
Search for persons
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Format
Online (24)
Mediatypes
Articles (Online) (11)
OpenAccess-fulltext (13)
Sorted by: Relevance
Sorted by: Year
?
1
Expanding the clinical spectrum of biglycan-related Meester..:
Meester, Josephina A. N.
;
Hebert, Anne
;
Bastiaansen, Maaike
...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
2
BTB domain mutations perturbing KCTD15 oligomerisation caus..:
Miller, Kerry A
;
Cruz Walma, David A
;
Pinkas, Daniel M
...
Journal of Medical Genetics. , 2024
Link:
https://doi.org/10.1136/..
?
3
Genetic association analysis of 77,539 genomes reveals rare..:
Greene, Daniel
;
Pirri, Daniela
;
Frudd, Karen
...
Nature Medicine. 29 (2023) 3 - p. 679-688 , 2023
Link:
https://doi.org/10.1038/..
?
4
The SHDRA syndrome-associated geneTMEM260encodes a protein-..:
Larsen, Ida Signe Bohse
;
Povolo, Lorenzo
;
Zhou, Luping
...
Proceedings of the National Academy of Sciences. 120 (2023) 21 - p. , 2023
Link:
https://doi.org/10.1073/..
?
5
Novel loss-of-function mutation in HERC2 is associated with..:
Elpidorou, Marilena
;
Best, Sunayna
;
Poulter, James A
...
Journal of Medical Genetics. 58 (2020) 5 - p. 334-341 , 2020
Link:
https://doi.org/10.1136/..
?
6
Correction: A restricted spectrum of missense KMT2D variant..:
Cuvertino, Sara
;
Hartill, Verity
;
Colyer, Alice
...
Genetics in Medicine. 22 (2020) 5 - p. 980 , 2020
Link:
https://doi.org/10.1038/..
?
7
A restricted spectrum of missense KMT2D variants cause a mu..:
Cuvertino, Sara
;
Hartill, Verity
;
Colyer, Alice
...
Genetics in Medicine. 22 (2020) 5 - p. 867-877 , 2020
Link:
https://doi.org/10.1038/..
?
8
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 a..:
Hartill, Verity L
;
van de Hoek, Glenn
;
Patel, Mitali P
...
Human Molecular Genetics. 27 (2017) 3 - p. 529-545 , 2017
Link:
https://doi.org/10.1093/..
?
9
Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Ma..:
Hartill, Verity
;
Szymanska, Katarzyna
;
Sharif, Saghira Malik
..
Frontiers in Pediatrics. 5 (2017) - p. , 2017
Link:
https://doi.org/10.3389/..
?
10
Sudden Cardiac Death Due to Deficiency of the Mitochondrial..:
Kennedy, Hannah
;
Haack, Tobias B.
;
Hartill, Verity
...
The American Journal of Human Genetics. 99 (2016) 3 - p. 674-682 , 2016
Link:
https://doi.org/10.1016/..
?
11
An unusual phenotype of X‐linked developmental delay and ex..:
Hartill, Verity L.
;
Tysoe, Carolyn
;
Manning, Nigel
...
American Journal of Medical Genetics Part A. 164 (2014) 4 - p. 907-914 , 2014
Link:
https://doi.org/10.1002/..
?
12
Genetic association analysis of 77,539 genomes reveals rare..:
Greene, Daniel
;
Pirri, Daniela
;
Frudd, Karen
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10033407/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
13
Genetic association analysis of 77,539 genomes reveals rare..:
Greene, Daniel
;
Pirri, Daniela
;
Frudd, Karen
...
doi:10.17863/CAM.96298. , 2023
Link:
https://doi.org/10.17863..
?
14
A restricted spectrum of missense KMT2D variants cause a mu..:
Cuvertino, Sara
;
Hartill, Verity
;
Colyer, Alice
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200597/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
15
Correction: A restricted spectrum of missense KMT2D variant..:
Cuvertino, Sara
;
Hartill, Verity
;
Colyer, Alice
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200592/. , 2020
Link:
http://www.ncbi.nlm.nih...
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