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PubPharm (35)
1
Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance
enthalten in:
Genes
| 2024
von
Koutsofti, C.
|
Ioannides, M.
|
Polydorou, C.
| +14
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2
The best of both worlds : Blending cutting-edge research with clinical processes for a productive exome clinic
enthalten in:
Clinical genetics
| 2024
von
Sullivan, J.
|
Spillmann, R.
|
Schoch, K.
| +8
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3
A large meta-analysis identifies genes associated with anterior uveitis
enthalten in:
Nature communications
| 2023
von
Gelfman, S.
|
Moscati, A.
|
Huergo, S.
| +120
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4
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
enthalten in:
Human molecular genetics
| 2023
von
Liu, Z.
|
Xin, B.
|
Smith, I.
| +51
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5
Investigation into the genetics of fetal congenital lymphatic anomalies
enthalten in:
Prenatal diagnosis
| 2023
von
Rogerson, D.
|
Alkelai, A.
|
Giordano, J.
| +8
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6
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening
enthalten in:
Genes
| 2023
von
Avnat, E.
|
Shapira, G.
|
Shoval, S.
| +8
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7
A concurrent dual analysis of genomic data augments diagnoses : Experiences of 2 clinical sites in the Undiagnosed Diseases Network
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Spillmann, R.
|
Tan, Q.
|
Reuter, C.
| +113
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8
Genetic insights into childhood-onset schizophrenia : The yield of clinical exome sequencing
enthalten in:
Schizophrenia research
| 2023
von
Alkelai, A.
|
Greenbaum, L.
|
Shohat, S.
| +12
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9
Risk Variants in the Exomes of Children With Critical Illness
enthalten in:
JAMA network open
| 2022
von
Motelow, J.
|
Lippa, N.
|
Hostyk, J.
| +9
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10
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
enthalten in:
Molecular psychiatry
| 2022
von
Alkelai, A.
|
Greenbaum, L.
|
Docherty, A.
| +19
CommentIn: Nat Rev Neurol. 2022 Mar;18(3):129-130. - PMID 34987233
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Thema: Journal Article
Medienart
35
Aufsätze
35
E-Artikel
35
E-Ressourcen
Zeitschriftentitel
3
Genetics in medicine : official journal of the ...
2
American journal of human genetics
2
BMC genomics
2
Genes
2
Nature communications
1
Clinical genetics
1
European journal of human genetics : EJHG
1
Frontiers in aging neuroscience
1
Human molecular genetics
1
Human psychopharmacology
1
JAMA network open
1
Journal of human genetics
1
Journal of psychiatric research
1
Molecular genetics & genomic medicine
1
Molecular neurobiology
1
Molecular psychiatry
1
Movement disorders : official journal of the Mo...
1
Nature
1
Neurobiology of aging
1
PLoS genetics
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Thema
Journal Article
18
Research Support, Non-U.S. Gov't
15
Research Support, N.I.H., Extramural
3
Antipsychotic Agents
3
Case Reports
3
Nerve Tissue Proteins
3
RNA, Messenger
2
Adaptor Proteins, Signal Transducing
2
Cell Adhesion Molecules
2
DNA-Binding Proteins
2
EC 3.4.21.-
2
Neuropeptides
2
Nuclear Proteins
2
RELN protein, human
2
Reelin Protein
2
Schizophrenia
2
TCF7L2 protein, human
2
Transcription Factor 7-Like 2 Protein
2
Transcription Factors
2
epilepsy
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Erscheinungszeitraum
19
2020-
16
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
35
Englisch
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