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Boys, Amber
31
results:
Search for persons
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Format
Online (31)
Mediatypes
Articles (Online) (20)
OpenAccess-fulltext (11)
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1
Correction: Genetic aetiologies for childhood speech disord..:
Kaspi, Antony
;
Hildebrand, Michael S.
;
Jackson, Victoria E.
...
Molecular Psychiatry. 28 (2023) 4 - p. 1664-1666 , 2023
Link:
https://doi.org/10.1038/..
?
2
Sclerosing perivascular epithelioid cell tumour (PEComa) of..:
Galea, Laurence A.
;
Hildebrand, Michael S.
;
Boys, Amber
...
Pathology. 55 (2023) 1 - p. 143-146 , 2023
Link:
https://doi.org/10.1016/..
?
3
Genetic aetiologies for childhood speech disorder: novel pa..:
Kaspi, Antony
;
Hildebrand, Michael S.
;
Jackson, Victoria E.
...
Molecular Psychiatry. , 2022
Link:
https://doi.org/10.1038/..
?
4
Mosaicism in tuberous sclerosis complex: Lowering the thres..:
Ye, Zimeng
;
Lin, Sufang
;
Zhao, Xia
...
Human Mutation. 43 (2022) 12 - p. 1956-1969 , 2022
Link:
https://doi.org/10.1002/..
?
5
Comparing saliva and blood for the detection of mosaic geno..:
Francis, David I.
;
Stark, Zornitza
;
Scheffer, Ingrid E.
...
European Journal of Human Genetics. 31 (2022) 5 - p. 521-525 , 2022
Link:
https://doi.org/10.1038/..
?
6
Sporadic hypothalamic hamartoma is a ciliopathy with somati..:
Green, Timothy E
;
Motelow, Joshua E
;
Bennett, Mark F
...
Human Molecular Genetics. 31 (2022) 14 - p. 2307-2316 , 2022
Link:
https://doi.org/10.1093/..
?
7
Small interstitial 9p24.3 deletions principally involving K..:
Wallis, Mathew J.
;
Boys, Amber
;
Tassano, Elisa
.
European Journal of Medical Genetics. 63 (2020) 1 - p. 103618 , 2020
Link:
https://doi.org/10.1016/..
?
8
Severe childhood speech disorder: Gene discovery highlights..:
Hildebrand, Michael S.
;
Jackson, Victoria E.
;
Scerri, Thomas S.
...
Neurology. 94 (2020) 20 - p. , 2020
Link:
https://doi.org/10.1212/..
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9
The importance of phenotypic information to guide genetic t..:
Ritchie, Anna
;
Boys, Amber
;
Corrie, Sylvea
...
Pathology. 52 (2020) - p. S27-S28 , 2020
Link:
https://doi.org/10.1016/..
?
10
Intellectual Disability Gene Discovery In a Diagnostic Sett..:
Boys, Amber
;
Francis, David
;
Petrovic, Vida
...
Pathology. 51 (2019) - p. S33 , 2019
Link:
https://doi.org/10.1016/..
?
11
Dorsal language stream anomalies in an inherited speech dis..:
Liégeois, Frédérique J
;
Turner, Samantha J
;
Mayes, Angela
...
Brain. 142 (2019) 4 - p. 966-977 , 2019
Link:
https://doi.org/10.1093/..
?
12
Characterization of speech and language phenotype in childr..:
Brignell, Amanda
;
St John, Miya
;
Boys, Amber
...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177 (2018) 8 - p. 700-708 , 2018
Link:
https://doi.org/10.1002/..
?
13
Deep phenotyping of speech and language skills in individua..:
Mei, Cristina
;
Fedorenko, Evelina
;
Amor, David J.
...
European Journal of Human Genetics. 26 (2018) 5 - p. 676-686 , 2018
Link:
https://doi.org/10.1038/..
?
14
A novel AMPD2 mutation outside the AMP deaminase domain cau..:
Marsh, Ashley P. L.
;
Yap, Patrick
;
Tan, Tiong
...
American Journal of Medical Genetics Part A. 173 (2017) 3 - p. 820-823 , 2017
Link:
https://doi.org/10.1002/..
?
15
Erratum: Corrigendum: Mutations in the histone methyltransf..:
UK10K Consortium
;
Meyer, Esther
;
Carss, Keren J
...
Nature Genetics. 49 (2017) 6 - p. 969-969 , 2017
Link:
https://doi.org/10.1038/..
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