Found: 31
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Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Receptor occupancy assessment by flow cytometry as a pharmacodynamic biomarker in biopharmaceutical development.
- Published in:
- Cytometry. Part B, 2016, v. 90, n. 2, p. 117, doi. 10.1002/cyto.b.21259
- By:
- Publication type:
- Article
Evaluation of assay interference and interpretation of CXCR4 receptor occupancy results in a preclinical study with MEDI3185, a fully human antibody to CXCR4.
- Published in:
- Cytometry. Part B, 2016, v. 90, n. 2, p. 209, doi. 10.1002/cyto.b.21327
- By:
- Publication type:
- Article
Multiplexing of receptor occupancy measurements for pharmacodynamic biomarker assessment of biopharmaceuticals.
- Published in:
- Cytometry. Part B, 2016, v. 90, n. 2, p. 128, doi. 10.1002/cyto.b.21319
- By:
- Publication type:
- Article
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
SCN1A Variants in vaccine-related febrile seizures: A prospective study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005022
- By:
- Publication type:
- Article
Neoadjuvant platinum-based chemotherapy and lymphadenectomy for penile cancer: an international, multi-institutional, real-world study.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 6, p. 966, doi. 10.1093/jnci/djae034
- By:
- Publication type:
- Article
Short Paper Section: A therapist's ritual of respect.
- Published in:
- Journal of Family Therapy, 1990, v. 12, n. 3, p. 287, doi. 10.1046/j..1990.00395.x
- By:
- Publication type:
- Article
Disparities among 2009 Pandemic Influenza A (H1N1) Hospital Admissions: A Mixed Methods Analysis – Illinois, April–December 2009.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0084380
- By:
- Publication type:
- Article
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03297-5
- By:
- Publication type:
- Article
Development and implementation of an electrolyte replacement protocol in the outpatient oncology infusion centers of a large academic healthcare system.
- Published in:
- Journal of Oncology Pharmacy Practice, 2020, v. 26, n. 8, p. 1871, doi. 10.1177/1078155220907671
- By:
- Publication type:
- Article
Evaluation of the prescribing patterns, adverse effects, and drug interactions of oral chemotherapy agents in an outpatient cancer center.
- Published in:
- Journal of Oncology Pharmacy Practice, 2019, v. 25, n. 7, p. 1564, doi. 10.1177/1078155218798150
- By:
- Publication type:
- Article
Vital Signs: Improving Antibiotic Use Among Hospitalized Patients.
- Published in:
- MMWR: Morbidity & Mortality Weekly Report, 2014, v. 63, n. 9, p. 194
- By:
- Publication type:
- Article
A Novel Pharmacodynamic Biomarker and Mechanistic Modeling Facilitate the Development of Tovetumab, a Monoclonal Antibody Directed Against Platelet-Derived Growth Factor Receptor Alpha, for Cancer Therapy.
- Published in:
- AAPS Journal, 2021, v. 23, n. 1, p. 1, doi. 10.1208/s12248-020-00523-3
- By:
- Publication type:
- Article
Poster 311: The Effects of Various Rehabilitative Methods and Techniques to Enhance the Quality of Life and Function in a Patient with Stiff Person Syndrome: A Case Report.
- Published in:
- 2009
- By:
- Publication type:
- Abstract
Poster 311: The Effects of Various Rehabilitative Methods and Techniques to Enhance the Quality of Life and Function in a Patient with Stiff Person Syndrome: A Case Report
- Published in:
- 2009
- By:
- Publication type:
- Abstract
Predicting 180-day mortality for women with ovarian cancer using machine learning and patient-reported outcome data.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-22614-1
- By:
- Publication type:
- Article
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12671-y
- By:
- Publication type:
- Article
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Sleep problems in Dravet syndrome: a modifiable comorbidity.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915
- By:
- Publication type:
- Article
Incidence of chemotherapy-induced peripheral neuropathy within 12 weeks of starting neurotoxic chemotherapy for multiple myeloma or lymphoma: a prospective, single-center, observational study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 4, p. 1046, doi. 10.1111/epi.17882
- By:
- Publication type:
- Article
Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 9, p. 2205, doi. 10.1111/epi.17015
- By:
- Publication type:
- Article
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 1, p. e13, doi. 10.1111/epi.16784
- By:
- Publication type:
- Article
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2461, doi. 10.1111/epi.16679
- By:
- Publication type:
- Article
A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1177, doi. 10.1111/epi.14087
- By:
- Publication type:
- Article
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <italic>WDR45</italic>.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 1, p. e5, doi. 10.1111/epi.13957
- By:
- Publication type:
- Article