Found: 32
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Management of Pediatric Urolithiasis Using a Combination of Laparoscopic Lithotomy and Pyeloscopy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Conocimiento, actitudes y creencias de los padres ante la fiebre en niños.
- Published in:
- Revista Mexicana de Pediatria, 2022, v. 89, n. 5, p. 190, doi. 10.35366/110504
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- Publication type:
- Article
Caracterización de las Ocupaciones de los Períodos Intermedio Tardío y Tardío (~1.000-1.536 años D.C.) en el Valle de Mauro (IV Región, Chile) a partir del Registro Zooarqueológico.
- Published in:
- Revista Chilena de Antropologia, 2014, n. 30, p. 129
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- Publication type:
- Article
Introducción de Taxones Domésticos y Control de Camélidos en el Norte Semiárido: Variabilidad Osteométrica en el Valle de Mauro, IV Región, Chile.
- Published in:
- Revista Chilena de Antropologia, 2014, n. 30, p. 98
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- Publication type:
- Article
Exome Sequencing in BRCA1- and BRCA2 -Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.01005
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- Publication type:
- Article
Not so benign.
- Published in:
- eLife, 2018, p. 1, doi. 10.7554/eLife.42181
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- Publication type:
- Article
A decade of RAD51C and RAD51D germline variants in cancer.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 285, doi. 10.1002/humu.24319
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- Publication type:
- Article
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 36, doi. 10.1002/humu.23676
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- Publication type:
- Article
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
- Published in:
- 2017
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- Publication type:
- journal article
Alternative language paradigms for functional magnetic resonance imaging as presurgical tools for inducing crossed cerebro-cerebellar language activations in brain tumor patients.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas.
- Published in:
- Acta Neuropathologica, 2018, v. 136, n. 4, p. 657, doi. 10.1007/s00401-018-1898-8
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- Publication type:
- Article
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.
- Published in:
- Acta Neuropathologica, 2016, v. 131, n. 6, p. 847, doi. 10.1007/s00401-016-1549-x
- By:
- Publication type:
- Article
Prevalence and Spectrum of DICER1 Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Autoconcepto y alta capacidad: influencia de estereotipos de género y programas de enriquecimiento.
- Published in:
- Revista Espacios, 2020, v. 41, n. 17, p. 123
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- Publication type:
- Article
SMARCA4-associated schwannomatosis.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 4, p. 505, doi. 10.1007/s00401-023-02546-4
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- Publication type:
- Article
DGCR8 and the six hit, three-step model of schwannomatosis.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 1, p. 115, doi. 10.1007/s00401-021-02387-z
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- Publication type:
- Article
Molecular characterization of DICER1-mutated pituitary blastoma.
- Published in:
- Acta Neuropathologica, 2021, v. 141, n. 6, p. 929, doi. 10.1007/s00401-021-02283-6
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- Publication type:
- Article
Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 6, p. 1115, doi. 10.1007/s00401-020-02139-5
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- Publication type:
- Article
Expanding the morphological spectrum of ovarian microcystic stromal tumour.
- Published in:
- Histopathology, 2019, v. 74, n. 3, p. 443, doi. 10.1111/his.13755
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- Publication type:
- Article
Systematic proximal mapping of the classical RAD51 paralogs unravel functionally and clinically relevant interactors for genome stability.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 11, p. 1, doi. 10.1371/journal.pgen.1010495
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- Publication type:
- Article
Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006090
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- Publication type:
- Article
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.
- Published in:
- Nature Communications, 2015, v. 6, n. 9, p. 8383, doi. 10.1038/ncomms9383
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- Publication type:
- Article
Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?
- Published in:
- 2018
- By:
- Publication type:
- letter
Germline RECQL mutations are associated with breast cancer susceptibility.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 643, doi. 10.1038/ng.3284
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- Publication type:
- Article
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 438, doi. 10.1038/ng.2931
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- Publication type:
- Article
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
- Published in:
- NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00315-8
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- Publication type:
- Article
Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
- Published in:
- NPJ Breast Cancer, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41523-019-0115-9
- By:
- Publication type:
- Article
Multiple DICER1‐related tumors in a child with a large interstitial 14q32 deletion.
- Published in:
- Genes, Chromosomes & Cancer, 2018, v. 57, n. 5, p. 223, doi. 10.1002/gcc.22523
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- Publication type:
- Article
Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81106-w
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- Publication type:
- Article
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06690-4
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- Publication type:
- Article