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Extending colonic mucosal microbiome analysis—assessment of colonic lavage as a proxy for endoscopic colonic biopsies.
- Published in:
- Microbiome, 2016, v. 4, p. 1, doi. 10.1186/s40168-016-0207-9
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- Publication type:
- Article
Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 3, p. 141, doi. 10.1159/000488817
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- Publication type:
- Article
Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice‐based competencies in clinical care through remote supervision.
- Published in:
- Journal of Genetic Counseling, 2024, v. 33, n. 1, p. 86, doi. 10.1002/jgc4.1872
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- Publication type:
- Article
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).
- Published in:
- Journal of Genetic Counseling, 2017, v. 26, n. 6, p. 1238, doi. 10.1007/s10897-017-0100-0
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- Publication type:
- Article
Low Intensity Shockwave Treatment Modulates Macrophage Functions Beneficial to Healing Chronic Wounds.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 7844, doi. 10.3390/ijms22157844
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- Publication type:
- Article
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2443
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- Publication type:
- Article
Rare presentation of FDX2‐related disorder and untargeted global metabolomics findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1239, doi. 10.1002/ajmg.a.62608
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- Publication type:
- Article
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1870, doi. 10.1002/ajmg.a.62170
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- Publication type:
- Article
Liver transplant as a curative treatment in a pediatric patient with classic homocystinuria: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1247, doi. 10.1002/ajmg.a.62076
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- Publication type:
- Article
Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945–2020).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 319, doi. 10.1002/ajmg.a.61963
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- Publication type:
- Article
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2433, doi. 10.1002/ajmg.a.61361
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- Publication type:
- Article
A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1205, doi. 10.1002/ajmg.a.61171
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- Publication type:
- Article
An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 94, doi. 10.1002/ajmg.a.60687
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- Publication type:
- Article
Cover Image, Volume 179A, Number 1, January 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. i, doi. 10.1002/ajmg.a.61048
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- Publication type:
- Article
Report of a Patient with a Constitutional Missense Mutation in SMARCB1, Coffin-Siris Phenotype, and Schwannomatosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3186, doi. 10.1002/ajmg.a.37356
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- Publication type:
- Article
Deletion and duplication of 11p13-11p14: Reciprocal aberrations derived from a paternal insertion.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2775, doi. 10.1002/ajmg.a.34232
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- Publication type:
- Article
Immunologic Parameters 2 Years after High-Titer Measles Immunization in Peruvian Childre.
- Published in:
- Journal of Infectious Diseases, 1993, v. 168, n. 5, p. 1097
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- Publication type:
- Article
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
- Published in:
- Nature Genetics, 2011, v. 43, n. 9, p. 883, doi. 10.1038/ng.908
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- Publication type:
- Article
Before the South Became the South: Pre-Colonial and Colonial Geographies of Contact in Robert J. Conley's Cherokee Historical Novels.
- Published in:
- 2006
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- Publication type:
- Literary Criticism
Impact of a School Health Coordinator Intervention on Health-Related School Policies and Student Behavior.
- Published in:
- Journal of School Health, 2010, v. 80, n. 4, p. 176, doi. 10.1111/j.1746-1561.2009.00484.x
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- Publication type:
- Article
A Case of Satoyoshi Syndrome: A Multisystem Disorder.
- Published in:
- Clinical Pediatrics, 2003, v. 42, n. 8, p. 745, doi. 10.1177/000992280304200811
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- Publication type:
- Article
First-Pass Meconium Samples from Healthy Term Vaginally-Delivered Neonates: An Analysis of the Microbiota.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133320
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- Publication type:
- Article
The TLR4 D299G and T399I SNPs Are Constitutively Active to Up-Regulate Expression of Trif-Dependent Genes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111460
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- Publication type:
- Article
The Impact of Different DNA Extraction Kits and Laboratories upon the Assessment of Human Gut Microbiota Composition by 16S rRNA Gene Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0088982
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- Publication type:
- Article
The Microaerophilic Microbiota of <i>De-Novo</i> Paediatric Inflammatory Bowel Disease: The BISCUIT Study.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058825
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- Publication type:
- Article
A Comprehensive Evaluation of Colonic Mucosal Isolates of Sutterella wadsworthensis from Inflammatory Bowel Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0027076
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- Publication type:
- Article
Detection of Campylobacter concisus and Other Campylobacter Species in Colonic Biopsies from Adults with Ulcerative Colitis.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021490
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- Publication type:
- Article
Enterohepatic Helicobacter in Ulcerative Colitis: Potential Pathogenic Entities?
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0017184
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- Publication type:
- Article
Land, Spirit, Power: First Nations at the National Gallery of Canada.
- Published in:
- Museum Anthropology, 1993, v. 17, n. 2, p. 95, doi. 10.1525/mua.1993.17.2.95
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- Publication type:
- Article
Optimised human stool sample collection for multi-omic microbiota analysis.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-67499-4
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- Publication type:
- Article
Subcellular Epithelial HMGB1 Expression Is Associated with Colorectal Neoplastic Progression, Male Sex, Mismatch Repair Protein Expression, Lymph Node Positivity, and an 'Immune Cold' Phenotype Associated with Poor Survival.
- Published in:
- Cancers, 2023, v. 15, n. 6, p. 1865, doi. 10.3390/cancers15061865
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- Publication type:
- Article
Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.
- Published in:
- Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9239-8
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- Publication type:
- Article
The Association Between the Medical Home and Pediatric Developmental Screening Among US Children Five Years and Younger: Results From the 2007 National Survey of Children's Health.
- Published in:
- Journal of the Louisiana State Medical Society, 2014, v. 166, n. 3, p. 109
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- Publication type:
- Article
PMM2‐CDG caused by uniparental disomy: Case report and literature review.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 16, doi. 10.1002/jmd2.12122
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- Publication type:
- Article
"The Interdependence of teh Peoples and Nations of the Earth": Beyond the Political-Correctness Debates.
- Published in:
- Phi Kappa Phi Forum, 2004, v. 84, n. 4, p. 36
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- Publication type:
- Article
Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics.
- Published in:
- Journal of Law, Medicine & Ethics, 2020, v. 48, n. 1, p. 69, doi. 10.1177/1073110520916996
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- Publication type:
- Article
Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants.
- Published in:
- Journal of Law, Medicine & Ethics, 2018, v. 46, n. 1, p. 87, doi. 10.1177/1073110518766024
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- Publication type:
- Article
Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations.
- Published in:
- Journal of Law, Medicine & Ethics, 2015, v. 43, n. 3, p. 440, doi. 10.1111/jlme.12288
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- Publication type:
- Article
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1715, doi. 10.1002/acn3.51668
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- Publication type:
- Article
Microcalorimetric Investigations of Reversible Staphylococcal Enterotoxin Unfolding.
- Published in:
- Toxins, 2022, v. 14, n. 8, p. 554, doi. 10.3390/toxins14080554
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- Publication type:
- Article
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 157, doi. 10.1002/jimd.12448
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- Publication type:
- Article
Access to Dietary Treatment for Inborn Errors of Metabolism: You Do Not Get What You Do Not Pay For.
- Published in:
- 2024
- By:
- Publication type:
- Opinion
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67496-3
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- Publication type:
- Article
Interleukin-27 Regulates the Function of the Gastrointestinal Epithelial Barrier in a Human Tissue-Derived Organoid Model.
- Published in:
- Biology (2079-7737), 2022, v. 11, n. 3, p. 427, doi. 10.3390/biology11030427
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- Publication type:
- Article
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.867337
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- Publication type:
- Article
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.859837
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- Publication type:
- Article
Good Lands: A Meditation and History on the Great Plains.
- Published in:
- 2013
- By:
- Publication type:
- Book Review
Operational-Level Compliance: Do You have the Structure in Place to Support It?
- Published in:
- Journal of Health Care Compliance, 2006, v. 8, n. 3, p. 27
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- Publication type:
- Article
Severe Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: A Case Report of Nonclassical Homocystinuria.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 7, p. 823, doi. 10.1177/0883073808315410
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- Publication type:
- Article
Myeloid leukaemic cells can lyse fibrin directly.
- Published in:
- British Journal of Haematology, 2000, v. 111, n. 2, p. 524, doi. 10.1046/j.1365-2141.2000.02381.x
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- Publication type:
- Article