Found: 20
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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders.
- Published in:
- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1880, doi. 10.1001/jama.2014.14604
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- Publication type:
- Article
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 963, doi. 10.1038/ejhg.2014.220
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- Publication type:
- Article
The Effects of On-Duty Napping on Intern Sleep Time and Fatigue.
- Published in:
- Annals of Internal Medicine, 2006, v. 144, n. 11, p. 792, doi. 10.7326/0003-4819-144-11-200606060-00005
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- Publication type:
- Article
Pharmacogenetics of Chemotherapy-Induced Cardiotoxicity.
- Published in:
- Current Oncology Reports, 2018, v. 20, n. 7, p. 1, doi. 10.1007/s11912-018-0696-8
- By:
- Publication type:
- Article
A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
- Published in:
- Pediatric Blood & Cancer, 2020, v. 67, n. 3, p. N.PAG, doi. 10.1002/pbc.28103
- By:
- Publication type:
- Article
A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
- Published in:
- 2019
- By:
- Publication type:
- case study
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.
- Published in:
- Pediatric Blood & Cancer, 2013, v. 60, n. 4, p. 570, doi. 10.1002/pbc.24316
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- Publication type:
- Article
Neuropilin 1 regulates bone marrow vascular regeneration and hematopoietic reconstitution.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27263-y
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- Publication type:
- Article
Young endothelial cells revive aging blood.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Childhood Exposures and Risk of Malignancy in Adulthood.
- Published in:
- 2015
- By:
- Publication type:
- journal article
B-Acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.
- Published in:
- Pediatric Blood & Cancer, 2011, v. 56, n. 3, p. 470, doi. 10.1002/pbc.22909
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- Publication type:
- Article
Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia.
- Published in:
- BMC Cancer, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2407-13-55
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- Publication type:
- Article
Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1430, doi. 10.1002/ajmg.a.62126
- By:
- Publication type:
- Article
Mutations in the sonic hedgehog pathway cause macrocephaly‐associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2517, doi. 10.1002/ajmg.a.61368
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- Publication type:
- Article
Experience-dependent modulation of motor corticospinal excitability during action observation.
- Published in:
- Experimental Brain Research, 2001, v. 140, n. 2, p. 241, doi. 10.1007/s002210100827
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- Publication type:
- Article
Bloom syndrome patients and mice display accelerated epigenetic aging.
- Published in:
- Aging Cell, 2023, v. 22, n. 10, p. 1, doi. 10.1111/acel.13964
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- Publication type:
- Article
Is polycystic kidney disease associated with malignancy in children?
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.725
- By:
- Publication type:
- Article
High-Dose Chemotherapy with Autologous Hematopoietic Stem-Cell Rescue for Pediatric Brain Tumor Patients: A Single Institution Experience from UCLA.
- Published in:
- Journal of Transplantation, 2011, p. 1, doi. 10.1155/2011/740673
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- Publication type:
- Article