E-LIB Suche - Ergebnisse für: Mackay, Deborah J G

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

AND THE WORDS BECOME FLESH: EXPLORING A BIOLOGICAL METAPHOR..:

Mackay, Deborah J. G.
Zygon®. 58 (2023) 4 - p. 886-904 , 2023

Link: https://doi.org/10.1111/..

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

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/..

7

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/..

8

Discrepant molecular and clinical diagnoses in Beckwith-Wie..:

Mackay, Deborah J.G. ; Bliek, Jet ; Lombardi, Maria Paola...
Genetics Research. 101 (2019) - p. , 2019

Link: https://doi.org/10.1017/..

9

The phenotypic variations of multi-locus imprinting disturb..:

Sparago, Angela ; Verma, Ankit ; Patricelli, Maria Grazia...
Clinical Epigenetics. 11 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

10

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/..

11

Revisiting Wilms tumour surveillance in Beckwith–Wiedemann ..:

Brioude, Frédéric ; Hennekam, Raoul ; Bliek, Jet...
European Journal of Human Genetics. 26 (2018) 4 - p. 471-472 , 2018

Link: https://doi.org/10.1038/..

12

Human imprinting disorders: Principles, practice, problems ..:

Mackay, Deborah J.G. ; Temple, I. Karen
European Journal of Medical Genetics. 60 (2017) 11 - p. 618-626 , 2017

Link: https://doi.org/10.1016/..

13

Genome-wide DNA methylation analysis of transient neonatal ..:

Bak, Mads ; Boonen, Susanne E. ; Dahl, Christina...
BMC Medical Genetics. 17 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

14

Erratum to: Imprinting disorders: a group of congenital dis..:

Eggermann, Thomas ; de Nanclares, Guiomar Perez ; Maher, Eamonn R....
Clinical Epigenetics. 8 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

15

Maternal uniparental disomy of chromosome 20: a novel impri..:

Mulchandani, Surabhi ; Bhoj, Elizabeth J. ; Luo, Minjie...
Genetics in Medicine. 18 (2016) 4 - p. 309-315 , 2016

Link: https://doi.org/10.1038/..