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PubPharm (242)
1
MET is a new confirmed gene responsible for familial distal arthrogryposis
enthalten in:
EMBO molecular medicine
| 2024
von
Maffeo, D.
|
Carrer, A.
|
Rina, A.
| +5
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2
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A
enthalten in:
Human molecular genetics
| 2024
von
Bhattacharya, A.
|
Parlanti, P.
|
Cavallo, L.
| +5
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3
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
enthalten in:
bioRxiv.org
| 2024
von
Butler-Laporte, G.
|
Povysil, G.
|
Kosmicki, J.
| +152
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4
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
enthalten in:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
| 2024
von
Mazel, B.
|
Delanne, J.
|
Garde, A.
| +20
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5
MET is a new confirmed gene responsible for familial distal arthrogryposis
enthalten in:
EMBO Molecular Medicine
| 2024
von
Maffeo, D.
|
Carrer, A.
|
Rina, A.
| +5
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6
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death
enthalten in:
Scientific reports
| 2024
von
Minnai, F.
|
Biscarini, F.
|
Esposito, M.
| +120
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7
Correction : The role of the genetic counsellor in the multidisciplinary team: the perception of geneticists in Europe
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Catapano, F.
|
El Hachmi, M.
|
Ketterer-Heng, N.
| +4
ErratumFor: Eur J Hum Genet. 2022 Dec;30(12):1432-1438. - PMID 36198805
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8
Correction : Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Savige, J.
|
Storey, H.
|
Watson, E.
| +40
ErratumFor: Eur J Hum Genet. 2021 Aug;29(8):1186-1197. - PMID 33854215
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9
Clinical and molecular characterization of COVID-19 hospitalized patients
enthalten in:
bioRxiv.org
| 2023
von
Benetti, E.
|
Giliberti, A.
|
Emiliozzi, A.
| +19
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10
Anxiety, concerns and COVID-19 : Cross-country perspectives from families and individuals with neurodevelopmental conditions
enthalten in:
Journal of global health
| 2023
von
Sideropoulos, V.
|
Van Herwegen, J.
|
Meuleman, B.
| +55
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Medienart
242
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E-Artikel
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E-Ressourcen
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Zeitschriftentitel
14
European journal of human genetics : EJHG
13
American journal of medical genetics. Part A
12
Journal of human genetics
11
European journal of medical genetics
11
Human mutation
10
bioRxiv.org
7
Human molecular genetics
6
Nephrology, dialysis, transplantation
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Pediatric nephrology
5
American journal of medical genetics / C
5
Clinical dysmorphology
5
Genetics in medicine : official journal of the ...
5
Journal of hematology & oncology
4
European journal of pediatrics
4
Journal of neurology
4
Kidney international
4
Nephrology, dialysis, transplantation : officia...
3
American journal of human genetics
3
Brain & development
3
Clinical genetics
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Thema
129
Journal Article
82
Research Support, Non-U.S. Gov't
33
Case Reports
15
Collagen Type IV
14
Methyl-CpG-Binding Protein 2
12
MECP2 protein, human
11
COVID-19
11
Research Support, N.I.H., Extramural
10
Autoantigens
10
Nerve Tissue Proteins
10
Transcription Factors
10
type IV collagen alpha3 chain
9
Alport syndrome
9
COL4A4 protein, human
9
intellectual disability
8
Letter
8
Multicenter Study
8
Published Erratum
8
Repressor Proteins
7
COL4A5 protein, human
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