Found: 17
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SNAVI: Desktop application for analysis and visualization of large-scale signaling networks.
- Published in:
- BMC Systems Biology, 2009, v. 3, p. 1, doi. 10.1186/1752-0509-3-10
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- Publication type:
- Article
Cohesin complex-associated holoprosencephaly.
- Published in:
- 2019
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- Publication type:
- journal article
RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta‐analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63494
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- Publication type:
- Article
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2738, doi. 10.1002/ajmg.a.62893
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- Publication type:
- Article
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 29, doi. 10.1111/cga.12234
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- Publication type:
- Article
Hydrops fetalis: Incidence, Etiologies, Management Strategies, and Outcomes.
- Published in:
- Research & Reports in Neonatology, 2023, v. 13, p. 81, doi. 10.2147/RRN.S411736
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- Publication type:
- Article
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 377, doi. 10.1111/cge.14360
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- Publication type:
- Article
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 503, doi. 10.1111/cge.14309
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- Publication type:
- Article
AVIS: AJAX viewer of interactive signaling networks.
- Published in:
- Bioinformatics, 2007, v. 23, n. 20, p. 2803, doi. 10.1093/bioinformatics/btm444
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- Publication type:
- Article
Prenatal Phenotype of Alkuraya‐Kučinskas Syndrome: A Novel Case and Systematic Literature Review.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 11, p. 1381, doi. 10.1002/pd.6637
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- Publication type:
- Article
PIEZO1 is the most common monogenic etiology of non‐immune hydrops fetalis detected by prenatal exome sequencing.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 12, p. 1556, doi. 10.1002/pd.6451
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- Publication type:
- Article
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2155, doi. 10.1002/humu.24119
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- Publication type:
- Article
ChEA: transcription factor regulation inferred from integrating genome-wide ChIP-X experiments.
- Published in:
- Bioinformatics, 2010, v. 26, n. 19, p. 2438, doi. 10.1093/bioinformatics/btq466
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- Publication type:
- Article
Network analyses in systems pharmacology.
- Published in:
- Bioinformatics, 2009, v. 25, n. 19, p. 2466, doi. 10.1093/bioinformatics/btp465
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- Publication type:
- Article
Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.
- Published in:
- Frontiers in Oncology, 2020, v. 9, p. 1, doi. 10.3389/fonc.2019.01507
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- Publication type:
- Article
Systems Pharmacology of Arrhythmias.
- Published in:
- Science Signaling, 2010, v. 3, n. 121, p. 1, doi. 10.1126/scisignal.2000723
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- Publication type:
- Article
Systems Pharmacology of Arrhythmias.
- Published in:
- Science Signaling, 2010, v. 3, n. 118, p. 1, doi. 10.1126/scisignal.2000723
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- Publication type:
- Article