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PubPharm (395)
1
Multi-Omics and Single-Cell Omics : New Tools in Drug Target Discovery
enthalten in:
Arteriosclerosis, thrombosis, and vascular biology
| 2024
von
Loscalzo, J.
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2
A comparative medical genomics approach may facilitate the interpretation of rare missense variation
enthalten in:
Journal of medical genetics
| 2024
von
Haque, B.
|
Guirguis, G.
|
Curtis, M.
| +4
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3
Use of genome sequencing to hunt for cryptic second-hit variants : analysis of 31 cases recruited to the 100 000 Genomes Project
enthalten in:
Journal of medical genetics
| 2023
von
Moore, A.
|
Yu, J.
|
Pei, Y.
| +75
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4
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
enthalten in:
Journal of medical genetics
| 2023
von
Mohajeri, A.
|
Vaseghi-Shanjani, M.
|
Rosenfeld, J.
| +126
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5
ARF1-related disorder : phenotypic and molecular spectrum
enthalten in:
Journal of medical genetics
| 2023
von
de Sainte Agathe, J.
|
Pode-Shakked, B.
|
Naudion, S.
| +46
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6
Germline pathogenic SMARCA4 variants in neuroblastoma
enthalten in:
Journal of medical genetics
| 2023
von
Witkowski, L.
|
Nichols, K.
|
Jongmans, M.
| +12
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7
Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report
enthalten in:
Arteriosclerosis, thrombosis, and vascular biology
| 2023
von
Gratton, J.
|
Humphries, S.
|
Futema, M.
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8
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis
enthalten in:
Journal of medical genetics
| 2023
von
Meinel, J.
|
Yumiceba, V.
|
Künstner, A.
| +9
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9
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India
enthalten in:
Journal of medical genetics
| 2023
von
Varshney, K.
|
Narayanachar, S.
|
Girisha, K.
| +9
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10
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions : 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
enthalten in:
Journal of medical genetics
| 2023
von
Mussa, A.
|
Leoni, C.
|
Iacoviello, M.
| +37
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Nucleic acids research
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11
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9
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8
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7
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7
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6
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6
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5
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5
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5
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4
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4
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Sequence Analysis, DNA - methods
53
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50
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46
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33
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33
Sequence Analysis, DNA - veterinary
32
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27
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24
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22
sequence analysis, DNA
19
methods
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Sequence Analysis, DNA - instrumentation
15
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