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AMERICAN JOURNAL OF PHARMACEUTICAL EDUCATION, ISSN 0002-9459, 2019, Volume 83, Issue 7, pp. 1534 - 1546
Journal Article
Human Mutation, ISSN 1059-7794, 04/2012, Volume 33, Issue 4, pp. 728 - 740
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 2016, Volume 3, Issue 2, pp. 114 - 123
OBJECTIVE: The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the... 
INTELLECTUAL DISABILITY | INACTIVATION | COMPLEX | SODIUM-CHANNEL NA(V)1.6 | SEIZURES | DE-NOVO MUTATIONS | MOVEMENT | DISRUPTS | NEUROSCIENCES | PHENOTYPIC SPECTRUM | MODULATION | CLINICAL NEUROLOGY | Convulsions & seizures | Mutagenesis | Plasmids | Neurons | Intellectual disabilities | Eye contact | Epilepsy | Amino acids | Mutation | Patients | Age
Journal Article
Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 10, pp. 1142 - 1154
Journal Article
Clinical and Translational Science, ISSN 1752-8054, 01/2018, Volume 11, Issue 1, pp. 71 - 76
Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 5, pp. 521 - 531
Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental... 
aplasia of alae nasi | cognitive impairment | Johanson–Blizzard syndrome | UBR1 | exocrine pancreatic insufficiency | Exocrine pancreatic insufficiency | Aplasia of alae nasi | Johanson-Blizzard syndrome | Cognitive impairment | PRENATAL ULTRASONOGRAPHIC DIAGNOSIS | COMPLEX | JOHANSON-BLIZZARD-SYNDROME | UBIQUITIN LIGASE | INVOLVEMENT | AUTOPSY FINDINGS | DIABETES-MELLITUS | MALFORMATIONS | SEQUENCE | GENETICS & HEREDITY | END RULE PATHWAY | Abnormalities, Multiple - pathology | Hypothyroidism - pathology | Nose - abnormalities | Growth Disorders - pathology | Humans | Databases, Genetic | Anus, Imperforate - pathology | Intellectual Disability - genetics | Pancreatic Diseases - pathology | Ectodermal Dysplasia - pathology | Dwarfism - pathology | Hypothyroidism - genetics | Abnormalities, Multiple - genetics | Nose - pathology | Intellectual Disability - pathology | Hearing Loss, Sensorineural - pathology | Hearing Loss, Sensorineural - genetics | Mutation - genetics | Pancreatic Diseases - genetics | Dwarfism - genetics | Phenotype | Anus, Imperforate - genetics | Ectodermal Dysplasia - genetics | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Ubiquitin | Genetic aspects | Thyroid hormones | Hypothyroidism | Ligases | Genotype & phenotype | Genetic disorders | Mutation | Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
npj Genomic Medicine, ISSN 2056-7944, 05/2016, Volume 1, Issue 1, p. 16010
With genomics influencing clinical decisions, genetics professionals are exponentially called upon as part of multidisciplinary care. Increasing demand for... 
MENDELIAN DISORDERS | TIME | MODEL | GENETICS & HEREDITY
Journal Article
Currents in Pharmacy Teaching and Learning, ISSN 1877-1297, 03/2017, Volume 9, Issue 2, pp. 324 - 331
This article describes the health testing training process used at Presbyterian College School of Pharmacy and evaluates perceptions of the sequential training... 
Health screening | Point-of-care testing | Health testing | Student pharmacist training | Health fair | Medical personnel | Training | Study and teaching | Curricula | Models | Pharmacy | Medical screening | Methods
Journal Article
Journal of Pharmacy Practice, ISSN 0897-1900, 08/2019, p. 89719001986760
Introduction: Pharmacist prescribing of contraception is becoming increasingly available in selected states. The objective of this study was to assess US... 
Journal Article
Journal of pharmacy practice, 08/2019, p. 897190019867601
Pharmacist prescribing of contraception is becoming increasingly available in selected states. The objective of this study was to assess US community... 
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 02/2016, Volume 3, Issue 2, pp. 114 - 123
Journal Article