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/vufind/Search/Results?lookfor=%22De+Franco%2C+Elisa%22&type=Person&sort=year
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PubPharm (143)
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
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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5
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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6
Developmentally dynamic changes in DNA methylation in the human pancreas
enthalten in:
bioRxiv.org
| 2024
von
MacCalman, A.
|
De Franco, E.
|
Franklin, A.
| +12
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7
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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8
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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9
The use of precision diagnostics for monogenic diabetes : a systematic review and expert opinion
enthalten in:
Communications medicine
| 2023
von
Murphy, R.
|
Colclough, K.
|
Pollin, T.
| +114
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10
Neonatal and early-onset diabetes in Ukraine : Atypical features and mortality
enthalten in:
Diabetic medicine : a journal of the British Diabetic Association
| 2023
von
Globa, E.
|
Zelinska, N.
|
Johnson, M.
| +2
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Medienart
143
Aufsätze
117
E-Artikel
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E-Ressourcen
26
Gedruckte Aufsätze
Zeitschriftentitel
16
Diabetologia
13
Diabetes
10
The journal of pediatric endocrinology and meta...
8
Acta diabetologica
8
Nature genetics
5
Frontiers in endocrinology
5
Journal of clinical research in pediatric endoc...
5
Journal of pediatric endocrinology & metabolism...
5
bioRxiv.org
4
Clinical epigenetics
4
Journal of clinical immunology
3
American journal of human genetics
3
Diagnostic pathology
3
Indian pediatrics
2
American journal of medical genetics. Part A
2
Cell metabolism
2
Clinical Genetics
2
Clinical genetics
2
Diabetic Medicine
2
Diabetic medicine : a journal of the British Di...
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Thema
70
Journal Article
46
Research Support, Non-U.S. Gov't
20
Case Reports
16
neonatal diabetes
15
Neonatal diabetes
12
Research Support, N.I.H., Extramural
12
Transcription Factors
10
Insulin
9
Potassium Channels, Inwardly Rectifying
8
ABCC8 protein, human
8
Genetic risk score
8
Kir6.2 channel
8
Sulfonylurea Receptors
8
Type 1 diabetes
7
KCNJ11
7
Review
6
EC 2.7.11.1
6
Genetic testing
6
transcription factor PTF1
5
DNA-Binding Proteins
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Erscheinungszeitraum
72
2020-
71
2010-2019
Erscheinungsjahr(e)
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Sprache
128
Englisch
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