E-LIB Suche - Ergebnisse für: Temple, I. Karen

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/..

2

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/..

3

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/..

4

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/..

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

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/..

15

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..