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Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

Annals of clinical and translational neurology, 2016-02, Vol.3 (2), p.114-123

2016

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Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

World journal of gastroenterology : WJG, 2008-11, Vol.14 (44), p.6863-6866

2008

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ACCELERATED MITRAL ANNULAR CALCIFICATION (MAC) IN PATIENTS WITH FABRY'S DISEASE (FD)

Journal of the American College of Cardiology, 2023-03, Vol.81 (8), p.3182-3182

2023

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eP223: Dominant-acting MAP3K20 variants cause split-foot malformation and sensorineural hearing loss

Genetics in medicine, 2022-03, Vol.24 (3), p.S138-S139

2022

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Challenges of diagnosis and management in children with late onset Pompe disease diagnosed by newborn screen

Molecular genetics and metabolism, 2021-04, Vol.132, p.S172-S173

2021

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eP275 - Challenges of diagnosis and management in children with late onset Pompe disease diagnosed by newborn screen

Molecular genetics and metabolism, 2021-04, Vol.132, p.S172-S173

2021

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Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2024-08, Vol.26 (8), p.101145, Article 101145

2024

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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Human mutation, 2012-04, Vol.33 (4), p.728-740

2012

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Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care

Clinical and translational science, 2018-01, Vol.11 (1), p.71-76

2018

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Human mutation, 2010-10, Vol.31 (10), p.1142-1154

2010

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Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices

Npj genomic medicine, 2016-05, Vol.1 (1), p.16010-16010, Article 16010

2016

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Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma

Nature clinical practice. Oncology, 2007-10, Vol.4 (10), p.608-612

2007

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High-fat diet-induced colonocyte dysfunction escalates microbiota-derived trimethylamine N -oxide

Science (American Association for the Advancement of Science), 2021-08, Vol.373 (6556), p.813-818

2021

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Binding and functional comparisons of two types of tumor necrosis factor antagonists

The Journal of pharmacology and experimental therapeutics, 2002-05, Vol.301 (2), p.418

2002

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Assessment of a Faculty and Preceptor Development Intervention to Foster Self-Awareness and Self-Confidence

American journal of pharmaceutical education, 2019-09, Vol.83 (7), p.6920-1546, Article 6920

2019

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Pharmacist self-perception of readiness to prescribe hormonal contraception and additional training needs

Currents in pharmacy teaching and learning, 2020-01, Vol.12 (1), p.27-34

2020

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Pharmacists’ Perspectives on Prescribing and Expanding Access to Hormonal Contraception in Pharmacies in the United States

Journal of pharmacy practice, 2021-04, Vol.34 (2), p.230-238

2021

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Dynamic Stretching of Fibrillar Collagen Enhances Cross-linking by Transglutaminas

Foot & ankle orthopaedics, 2019-10, Vol.4 (4), p.2473011419

2019

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Anti-IL-13 monoclonal antibody inhibits airway hyperresponsiveness, inflammation and airway remodeling

Cytokine (Philadelphia, Pa.), 2004-12, Vol.28 (6), p.224-232

2004

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Student pharmacist perceived benefit of a sequential training model for health testing

Currents in pharmacy teaching and learning, 2017-03, Vol.9 (2), p.324-331

2017

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Anti-TNF-alpha antibody allows healing of joint damage in polyarthritic transgenic mice

Arthritis research, 2002-01, Vol.4 (5), p.R7-R7, Article R7

2002

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Effects of 2 Different Anti–Tumor Necrosis Factor–α Agents in a Primate Model of Subcutaneous Abscess Formation

The Journal of infectious diseases, 2002-01, Vol.185 (2), p.204-213

2002

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Anti-TNF-[alpha] antibody allows healing of joint damage in polyarthritic transgenic mice

Arthritis research & therapy, 2002-06, Vol.4 (5)

2002

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Recommended Community Strategies and Measurements to Prevent Obesity in the United States

MMWR. Recommendations and reports, 2009-07, Vol.58 (7), p.1-29

2009

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Contributor Biographical Sketches

The Experiential Library, 2017, p.xiii-xxiii

2017

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Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

ACCELERATED MITRAL ANNULAR CALCIFICATION (MAC) IN PATIENTS WITH FABRY'S DISEASE (FD)

eP223: Dominant-acting MAP3K20 variants cause split-foot malformation and sensorineural hearing loss

Challenges of diagnosis and management in children with late onset Pompe disease diagnosed by newborn screen

eP275 - Challenges of diagnosis and management in children with late onset Pompe disease diagnosed by newborn screen

Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices

Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma

High-fat diet-induced colonocyte dysfunction escalates microbiota-derived trimethylamine N -oxide

Binding and functional comparisons of two types of tumor necrosis factor antagonists

Assessment of a Faculty and Preceptor Development Intervention to Foster Self-Awareness and Self-Confidence

Pharmacist self-perception of readiness to prescribe hormonal contraception and additional training needs

Pharmacists’ Perspectives on Prescribing and Expanding Access to Hormonal Contraception in Pharmacies in the United States

Dynamic Stretching of Fibrillar Collagen Enhances Cross-linking by Transglutaminas

Anti-IL-13 monoclonal antibody inhibits airway hyperresponsiveness, inflammation and airway remodeling

Student pharmacist perceived benefit of a sequential training model for health testing

Anti-TNF-alpha antibody allows healing of joint damage in polyarthritic transgenic mice

Effects of 2 Different Anti–Tumor Necrosis Factor–α Agents in a Primate Model of Subcutaneous Abscess Formation

Anti-TNF-[alpha] antibody allows healing of joint damage in polyarthritic transgenic mice

Recommended Community Strategies and Measurements to Prevent Obesity in the United States

Contributor Biographical Sketches

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