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/vufind/Search/Results?lookfor=%22Whole+Genome+Sequencing%22&type=Subject&filter%5B%5D=topic_facet%3A%22Case+Reports%22
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PubPharm (426)
1
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis : case presentation and literature review
enthalten in:
BMC nephrology
| 2024
von
Al-Maraghi, A.
|
Aamer, W.
|
Ziab, M.
| +9
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2
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis
enthalten in:
Genes
| 2024
von
de Oliveira-Sobrinho, R.
|
Appenzeller, S.
|
Holanda, I.
| +5
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3
A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy
enthalten in:
BMC neurology
| 2024
von
Kaburagi, K.
|
Hagiwara, Y.
|
Tachikawa, K.
| +8
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4
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies : A case report
enthalten in:
Epilepsia open
| 2024
von
Nyaga, D.
|
Hildebrand, M.
|
de Valles-Ibáñez, G.
| +7
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5
First detection of a cefiderocol-resistant and extensively drug-resistant Acinetobacter baumannii clinical isolate in Bulgaria
enthalten in:
Acta microbiologica et immunologica Hungarica
| 2024
von
Strateva, T.
|
Peykov, S.
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6
ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype : Case report and molecular review
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Perrone, E.
|
Coelho, A.
|
Virmond, L.
| +9
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7
First detection in Spain of NDM-1-producing Pseudomonas aeruginosa in two patients transferred from Ukraine to a university hospital
enthalten in:
Journal of global antimicrobial resistance
| 2024
von
Hernández-García, M.
|
Cabello, M.
|
Ponce-Alonso, M.
| +5
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8
Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency
enthalten in:
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
| 2024
von
Jing, J.
|
Zhang, C.
|
Du, S.
| +3
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9
Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder
enthalten in:
Metabolites
| 2024
von
Shaath, R.
|
Al-Maraghi, A.
|
Ali, H.
| +11
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10
A rare Ewing-like small round cell tumor in prostate : a case report and literature review
enthalten in:
Journal of cancer research and clinical oncology
| 2024
von
Wang, Z.
|
Ye, J.
|
Hu, J.
| +2
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Thema: Case Reports
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426
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Emerging infectious diseases
14
International journal of infectious diseases : ...
13
American journal of medical genetics. Part A
12
BMC infectious diseases
11
Molecular genetics & genomic medicine
10
IDCases
8
Gut pathogens
8
Infection and drug resistance
8
Journal of veterinary internal medicine
7
3 Biotech
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Diagnostic microbiology and infectious disease
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Euro surveillance : bulletin Europeen sur les m...
6
European journal of medical genetics
6
Frontiers in cellular and infection microbiology
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Journal of infection and chemotherapy : officia...
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BMC medical genetics
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Clinical case reports
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Frontiers in immunology
5
International journal of molecular sciences
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Thema
Case Reports
257
Journal Article
110
whole genome sequencing
102
Research Support, Non-U.S. Gov't
94
Whole genome sequencing
80
whole-genome sequencing
64
Whole-genome sequencing
59
Anti-Bacterial Agents
21
EC 3.5.2.6
21
beta-Lactamases
19
Bacterial Proteins
17
Research Support, N.I.H., Extramural
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Case report
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Letter
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bacteria
13
antimicrobial resistance
11
Klebsiella pneumoniae
11
RNA, Ribosomal, 16S
11
Review
11
case report
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2020-
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2010-2019
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