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PubPharm (249)
1
Impact of Deletion on Angelman Syndrome Phenotype Variability : Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay
enthalten in:
Journal of pediatric genetics
| 2024
von
Belghiti, H.
|
Abbassi, M.
|
Sayel, H.
| +6
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2
High OXPHOS efficiency in RA-FUdr-differentiated SH-SY5Y cells : involvement of cAMP signalling and respiratory supercomplexes
enthalten in:
Scientific reports
| 2024
von
Matrella, M.
|
Valletti, A.
|
Gigante, I.
| +8
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3
Rally 'round the flag effects are not for all : Trajectories of institutional trust among populist and non-populist voters
enthalten in:
Social science research
| 2024
von
Colloca, P.
|
Roccato, M.
|
Russo, S.
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4
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome
enthalten in:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
| 2024
von
Cogliati, F.
|
Straniero, L.
|
Rimoldi, V.
| +9
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5
But aren’t all soaps metal soaps? A review of applications, physico-chemical properties of metal soaps and their occurrence in cultural heritage studies
enthalten in:
Heritage Science
| 2023
von
Russo, S.
|
Brambilla, L.
|
Thomas, J.
| +1
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6
Prenatal testing for imprinting disorders : A laboratory perspective
enthalten in:
Prenatal diagnosis
| 2023
von
Beygo, J.
|
Russo, S.
|
Tannorella, P.
| +4
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7
A new look on politicized reticence to vaccination : populism and COVID-19 vaccine refusal
enthalten in:
Psychological medicine
| 2023
von
Roccato, M.
|
Russo, S.
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8
Leader-member exchange (LMX) quality and follower well-being : A daily diary study
enthalten in:
Journal of occupational health psychology
| 2023
von
Martin, R.
|
Ono, M.
|
Legood, A.
| +2
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9
Case report : Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome
enthalten in:
Frontiers in pediatrics
| 2023
von
Tovaglieri, N.
|
Russo, S.
|
Micaglio, E.
| +2
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10
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
enthalten in:
Cancers
| 2023
von
Luca, M.
|
Carli, D.
|
Cardaropoli, S.
| +19
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Medienart
249
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171
E-Artikel
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Zeitschriftentitel
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Clinical epigenetics
14
American journal of medical genetics. Part A
9
BMC medical genetics
8
Human molecular genetics
7
European journal of human genetics : EJHG
7
International journal of molecular sciences
7
Neurogenetics
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European journal of medical genetics
4
Acta neuropathologica
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American journal of medical genetics
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American journal of medical genetics / C
4
Epilepsia
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Molecular cytogenetics
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Molecular neurobiology
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The Journal of clinical endocrinology and metab...
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Chromosome research
3
Epigenetics
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Frontiers in genetics
3
Genome medicine
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Thema
133
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70
Research Support, Non-U.S. Gov't
27
Case Reports
14
Cell Cycle Proteins
12
Review
10
Cornelia de Lange syndrome
10
Methyl-CpG-Binding Protein 2
9
Beckwith-Wiedemann syndrome
9
MECP2 protein, human
9
Proteins
8
Chromosomal Proteins, Non-Histone
8
DNA methylation
8
Genomic imprinting
8
Imprinting disorders
8
structural maintenance of chromosome protein 1
7
NIPBL protein, human
6
Beckwith–Wiedemann syndrome
6
Comparative Study
6
EC 2.7.11.1
6
Genetics
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2020-
133
2010-2019
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