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Temple, I. Karen
459
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Online (459)
Mediatypes
E-Books (2)
Articles (Online) (320)
Bookchapter (Online) (15)
OpenAccess-fulltext (122)
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1
Body Composition and Metabolism in Adults With Molecularly ..:
Lokulo-Sodipe, Oluwakemi
;
Inskip, Hazel M
;
Byrne, Christopher D
...
The Journal of Clinical Endocrinology & Metabolism. , 2024
Link:
https://doi.org/10.1210/..
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2
Multi-locus imprinting disturbance (MLID): interim joint st..:
Mackay, Deborah J. G.
;
Gazdagh, Gabriella
;
Monk, David
...
Clinical Epigenetics. 16 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
3
A case of mosaic deletion of paternally‐inherited PLAGL1 an..:
Alhendi, Ahmed S. N.
;
Gazdagh, Gabriella
;
Lim, Derek
...
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 383-388 , 2023
Link:
https://doi.org/10.1002/..
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4
First step towards a consensus strategy for multi-locus dia..:
Mackay, Deborah
;
Bliek, Jet
;
Kagami, Masayo
...
Clinical Epigenetics. 14 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
5
Height and body mass index in molecularly confirmed Silver–..:
Lokulo‐Sodipe, Oluwakemi
;
Giabicani, Eloïse
;
Canton, Ana P. M.
...
Clinical Endocrinology. 97 (2022) 3 - p. 284-292 , 2022
Link:
https://doi.org/10.1111/..
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6
Trans-acting genetic variants causing multilocus imprinting..:
Eggermann, Thomas
;
Yapici, Elzem
;
Bliek, Jet
...
Clinical Epigenetics. 14 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
7
Ongoing Challenges in the Diagnosis of 11p15.5-Associated I..:
Mackay, Deborah J. G.
;
Temple, I. Karen
Molecular Diagnosis & Therapy. 26 (2022) 3 - p. 263-272 , 2022
Link:
https://doi.org/10.1007/..
?
8
A patient with multilocus imprinting disturbance involving ..:
Grosvenor, Sarah E.
;
Davies, Justin H.
;
Lever, Margaret
...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1896-1903 , 2022
Link:
https://doi.org/10.1002/..
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9
Activating mutations in BRAF disrupt the hypothalamo-pituit..:
Gualtieri, Angelica
;
Kyprianou, Nikolina
;
Gregory, Louise C.
...
Nature Communications. 12 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
10
DNA Methylation Signature for EZH2 Functionally Classifies ..:
Choufani, Sanaa
;
Gibson, William T.
;
Turinsky, Andrei L.
...
The American Journal of Human Genetics. 106 (2020) 5 - p. 596-610 , 2020
Link:
https://doi.org/10.1016/..
?
11
Successful pregnancies in an adult with Meier‐Gorlin syndro..:
Knapp, Karen M.
;
Murray, Jennie
;
Temple, I. Karen
.
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 871-876 , 2020
Link:
https://doi.org/10.1002/..
?
12
Phenotype of genetically confirmed Silver-Russell syndrome ..:
Lokulo-Sodipe, Oluwakemi
;
Ballard, Lisa
;
Child, Jenny
...
Journal of Medical Genetics. 57 (2020) 10 - p. 683-691 , 2020
Link:
https://doi.org/10.1136/..
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13
A Diagnosis for All Rare Genetic Diseases: The Horizon and ..:
Boycott, Kym M.
;
Hartley, Taila
;
Biesecker, Leslie G.
...
Cell. 177 (2019) 1 - p. 32-37 , 2019
Link:
https://doi.org/10.1016/..
?
14
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/..
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15
HIST1H1E heterozygous protein‐truncating variants cause a r..:
Burkardt, Deepika D'Cunha
;
Zachariou, Anna
;
Loveday, Chey
...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2049-2055 , 2019
Link:
https://doi.org/10.1002/..
1-15