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Mackay, Deborah
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1

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/..
 
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2

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/..
 
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3

Disturbed genomic imprinting and its relevance for human re..:

Eggermann, Thomas ; Kagan, Karl Oliver ; Begemann, Matthias..
Human Reproduction Update.  26 (2020)  2 - p. 197-213 , 2020
Link: https://doi.org/10.1093/..
 
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4

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/..
 
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5

Causes and Consequences of Multi-Locus Imprinting Disturban..:

Sanchez-Delgado, Marta ; Riccio, Andrea ; Eggermann, Thomas...
Trends in Genetics.  32 (2016)  7 - p. 444-455 , 2016
Link: https://doi.org/10.1016/..
 
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6

Clinical and genetic features of Argentinian children with ..:

Taberner, Patricia ; Flanagan, Sarah E. ; Mackay, Deborah J....
Diabetes Research and Clinical Practice.  117 (2016)  - p. 104-110 , 2016
Link: https://doi.org/10.1016/..
 
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7

Congenital imprinting disorders: EUCID.net - a network to d..:

Eggermann, Thomas ; Netchine, Irène ; Temple, I Karen...
Clinical Epigenetics.  7 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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8

Clinical characteristics and molecular genetic analysis of ..:

Demirbilek, Huseyin ; Arya, Ved Bhushan ; Ozbek, Mehmet Nuri...
European Journal of Endocrinology.  172 (2015)  6 - p. 697-705 , 2015
Link: https://doi.org/10.1530/..
 
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9

Congenital imprinting disorders: Application of multilocus ..:

Soellner, Lukas ; Monk, David ; Rezwan, Faisal I....
Molecular and Cellular Probes.  29 (2015)  5 - p. 282-290 , 2015
Link: https://doi.org/10.1016/..
 
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10

Clinical and molecular basis of transient neonatal diabetes..:

Alves, Cresio ; Flanagan, Sarah E. ; Ellard, Sian.
Diabetes Research and Clinical Practice.  97 (2012)  3 - p. e41-e44 , 2012
Link: https://doi.org/10.1016/..
 
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11

Beckwith Wiedemann imprinting defect found in leucocyte but..:

Murphy, Rinki ; Mackay, Deborah ; Mitchell, Ed A
BMC Medical Genetics.  13 (2012)  1 - p. , 2012
Link: https://doi.org/10.1186/..
 
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12

Methylation profiling in individuals with uniparental disom..:

Sharp, Andrew J. ; Migliavacca, Eugenia ; Dupre, Yann...
Genome Research.  20 (2010)  9 - p. 1271-1278 , 2010
Link: https://doi.org/10.1101/..
 
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13

Microarray‐based DNA methylation analysis of imprinted loci..:

Martin‐Subero, Jose I. ; Bibikova, Marina ; Mackay, Deborah...
American Journal of Medical Genetics Part A.  146A (2008)  24 - p. 3227-3229 , 2008
Link: https://doi.org/10.1002/..
 
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14

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/..
 
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15

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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