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/vufind/Search/Results?lookfor=%22Wakeling%2C+Matthew+N%22&type=Person&sort=year
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PubPharm (30)
1
Primate-specific ZNF808 is essential for pancreatic development in humans
enthalten in:
bioRxiv.org
| 2024
von
De Franco, E.
|
Owens, N.
|
Montaser, H.
| +13
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2
A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling
HK1
enthalten in:
bioRxiv.org
| 2024
von
Wakeling, M.
|
Owens, N.
|
Hopkinson, J.
| +20
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3
A homozygous p.(Arg371Ser) mutation in
FICD
de-regulates AMPylation of the human endoplasmic reticulum chaperone BiP causing infancy-onset diabetes and severe neurodevelopmental delay
enthalten in:
bioRxiv.org
| 2024
von
Perera, L.
|
Hattersley, A.
|
Harding, H.
| +7
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4
REVEL is better at predicting pathogenicity of loss-of-function than gain-of-function variants
enthalten in:
bioRxiv.org
| 2024
von
Hopkins, J.
|
Wakeling, M.
|
Johnson, M.
| +2
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5
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Laver, T.
|
Wakeling, M.
|
Caswell, R.
| +17
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6
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency
enthalten in:
The Journal of experimental medicine
| 2024
von
Johnson, M.
|
Ogishi, M.
|
Domingo-Vila, C.
| +29
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7
Paediatric diabetes subtypes in a consanguineous population : a single-centre cohort study from Kurdistan, Iraq
enthalten in:
Diabetologia
| 2024
von
Amaratunga, S.
|
Hussein Tayeb, T.
|
Muhamad Sediq, R.
| +6
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8
Primate-specific ZNF808 is essential for pancreatic development in humans
enthalten in:
Nature genetics
| 2023
von
De Franco, E.
|
Owens, N.
|
Montaser, H.
| +37
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9
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
enthalten in:
Brain : a journal of neurology
| 2023
von
Fasham, J.
|
Huebner, A.
|
Liebmann, L.
| +27
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10
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus
enthalten in:
Diabetes
| 2023
von
Russ-Silsby, J.
|
Patel, K.
|
Laver, T.
| +8
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Zeitschriftentitel
8
bioRxiv.org
4
Diabetes
2
Brain : a journal of neurology
2
Nature genetics
2
Wellcome open research
1
American journal of human genetics
1
Brain
1
Clinical Genetics
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1
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1
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Thema
18
Journal Article
11
Research Support, Non-U.S. Gov't
7
570
7
Biology
3
Research Support, N.I.H., Extramural
2
DNA-Binding Proteins
2
Genetics
2
mutation
1
415SHH325A
1
56-12-2
1
Adenosine Monophosphate
1
Apoptosis Regulatory Proteins
1
B7-H1 Antigen
1
BLK protein, human
1
CAMSAP1 protein, human
1
Camsap1 protein, mouse
1
Case Reports
1
Cell Biology
1
Cell stress
1
Chloride-Bicarbonate Antiporters
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Erscheinungszeitraum
26
2020-
4
2010-2019
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28
Englisch
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