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/vufind/Search/Results?lookfor=%22Mackay%2C+Deborah%22&type=Person&sort=year
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PubPharm (168)
1
Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2024
von
Lokulo-Sodipe, O.
|
Inskip, H.
|
Byrne, C.
| +5
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2
A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Alhendi, A.
|
Gazdagh, G.
|
Lim, D.
| +5
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3
A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Alhendi, A.
|
Gazdagh, G.
|
Lim, D.
| +5
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4
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
enthalten in:
Clinical epigenetics
| 2022
von
Mackay, D.
|
Bliek, J.
|
Kagami, M.
| +26
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5
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
enthalten in:
Clinical epigenetics
| 2022
von
Mackay, D.
|
Bliek, J.
|
Kagami, M.
| +26
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6
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
enthalten in:
Clinical epigenetics
| 2022
von
Mackay, D.
|
Bliek, J.
|
Kagami, M.
| +26
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7
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
enthalten in:
Clinical epigenetics
| 2022
von
Mackay, D.
|
Bliek, J.
|
Kagami, M.
| +26
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8
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment
enthalten in:
Clinical endocrinology
| 2022
von
Lokulo-Sodipe, O.
|
Giabicani, E.
|
Canton, A.
| +10
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9
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome : a real-world study
enthalten in:
Journal of medical genetics
| 2022
von
Alhendi, A.
|
Lim, D.
|
McKee, S.
| +5
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10
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Grosvenor, S.
|
Davies, J.
|
Lever, M.
| +3
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Clinical epigenetics
15
European journal of human genetics : EJHG
14
Journal of medical genetics
8
Diabetes
7
American journal of medical genetics. Part A
6
BMC medical genetics
4
American journal of human genetics
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Diabetes care
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Diabetes research and clinical practice
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The journal of biological chemistry
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Nature genetics
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Thema
87
Journal Article
65
Research Support, Non-U.S. Gov't
23
Case Reports
13
Imprinting disorders
12
Review
10
Potassium Channels, Inwardly Rectifying
10
Transcription Factors
9
Sulfonylurea Receptors
8
Uniparental disomy
7
ABCC8 protein, human
7
DNA methylation
7
RNA, Long Noncoding
7
Silver-Russell syndrome
6
ATP-Binding Cassette Transporters
6
Cell Cycle Proteins
6
H19 long non-coding RNA
6
Receptors, Drug
6
Research Support, N.I.H., Extramural
5
67763-97-7
5
Beckwith-Wiedemann syndrome
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1900-1999
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