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Tatton-Brown, Katrina
145
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Online (145)
Mediatypes
Articles (Online) (87)
OpenAccess-fulltext (58)
Sorted by: Relevance
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1
Epilepsy and overgrowth–intellectual disability syndromes: ..:
Grens, Kerry
;
Church, Kit M.
;
Diehl, Eric
...
Therapeutic Advances in Rare Disease. 5 (2024) - p. , 2024
Link:
https://doi.org/10.1177/..
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2
Mainstreaming of genomics in oncology: a nationwide survey ..:
Tutika, Rippie K
;
Bennett, James A
;
Abraham, Jean
...
Clinical Medicine. 23 (2023) 1 - p. 9-15 , 2023
Link:
https://doi.org/10.7861/..
?
3
Evaluation of two Massive Open Online Courses (MOOCs) in ge..:
Coad, Beth
;
Joekes, Katherine
;
Rudnicka, Alicja
...
BMC Medical Education. 23 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
4
ATP6V0C variants impair V-ATPase function causing a neurode..:
Mattison, Kari A
;
Tossing, Gilles
;
Mulroe, Fred
...
Brain. 146 (2022) 4 - p. 1357-1372 , 2022
Link:
https://doi.org/10.1093/..
?
5
Quantifying evidence toward pathogenicity for rare phenotyp..:
Garrett, Alice
;
Loveday, Chey
;
King, Laura
...
Genetics in Medicine. 24 (2022) 1 - p. 41-50 , 2022
Link:
https://doi.org/10.1016/..
?
6
Systematic Profiling of DNMT3A Variants Reveals Protein Ins..:
Huang, Yung-Hsin
;
Chen, Chun-Wei
;
Sundaramurthy, Venkatasubramaniam
...
Cancer Discovery. 12 (2021) 1 - p. 220-235 , 2021
Link:
https://doi.org/10.1158/..
?
7
A synonymous UPF3B variant causing a speech disorder implic..:
Domingo, Deepti
;
Nawaz, Urwah
;
Corbett, Mark
...
Human Molecular Genetics. 29 (2020) 15 - p. 2568-2578 , 2020
Link:
https://doi.org/10.1093/..
?
8
Genomics: the power, potential and pitfalls of the new tech..:
Josephs, Katherine S
;
Berner, Alison
;
George, Angela
...
Clinical Medicine. 19 (2019) 4 - p. 269-272 , 2019
Link:
https://doi.org/10.7861/..
?
9
Corrigendum: Mutations in the PP2A regulatory subunit B fam..:
Loveday, Chey
;
Tatton-Brown, Katrina
;
Clarke, Matthew
...
Human Molecular Genetics. 28 (2019) 9 - p. 1578-1578 , 2019
Link:
https://doi.org/10.1093/..
?
10
Genetics of Growth Disorders—Which Patients Require Genetic..:
Argente, Jesús
;
Tatton-Brown, Katrina
;
Lehwalder, Dagmar
.
Frontiers in Endocrinology. 10 (2019) - p. , 2019
Link:
https://doi.org/10.3389/..
?
11
Growth disrupting mutations in epigenetic regulatory molecu..:
Jeffries, Aaron R.
;
Maroofian, Reza
;
Salter, Claire G.
...
Genome Research. 29 (2019) 7 - p. 1057-1066 , 2019
Link:
https://doi.org/10.1101/..
?
12
De Novo and Inherited Loss-of-Function Variants in TLK2: Cl..:
Reijnders, Margot R.F.
;
Miller, Kerry A.
;
Alvi, Mohsan
...
The American Journal of Human Genetics. 102 (2018) 6 - p. 1195-1203 , 2018
Link:
https://doi.org/10.1016/..
?
13
Correction: Germline mutations in the oncogene EZH2 cause W..:
Tatton-Brown, Katrina
;
Hanks, Sandra
;
Ruark, Elise
...
Oncotarget. 9 (2018) 94 - p. 36719-36719 , 2018
Link:
https://doi.org/10.18632..
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14
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 in..:
Tatton-Brown, Katrina
;
Zachariou, Anna
;
Loveday, Chey
...
Wellcome Open Research. 3 (2018) - p. 46 , 2018
Link:
https://doi.org/10.12688..
?
15
Clinical and molecular diagnosis, screening and management ..:
Brioude, Frédéric
;
Kalish, Jennifer M.
;
Mussa, Alessandro
...
Nature Reviews Endocrinology. 14 (2018) 4 - p. 229-249 , 2018
Link:
https://doi.org/10.1038/..
1-15