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Pathology, ISSN 0031-3025, 02/2019, Volume 51, pp. S35 - S35
Journal Article
Journal Article
Nursing Administration Quarterly, ISSN 0363-9568, 12/2015, Volume 39, Issue 1, pp. 69 - 77
Transforming health care systems to improve quality is the responsibility of nurse executives and frontline nurses alike, yet frontline nurses are often... 
Shared governance | Engagement | Leadership | Empowerment | Decision Making | Humans | Cooperative Behavior | Education, Nursing - methods | Nurses - trends | Qualitative Research | Power (Psychology) | Mentors | Practice | Leadership styles | Evaluation | Nurses | Analysis
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, p. e0178125
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2010, Volume 87, Issue 1, pp. 52 - 59
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 11/2013, Volume 22, Issue 22, pp. 4460 - 4473
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 08/2019, Volume 27, Issue 8, pp. 1267 - 1273
We establish autosomal recessive DES variants p.(Leu190Pro) and a deep intronic splice variant causing inclusion of a frameshift-inducing artificial... 
MUSCULAR-DYSTROPHY | SKELETAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATION | CARDIOMYOPATHY | GENETICS & HEREDITY | Heart | Alternative splicing | Splicing | Nonsense mutation | Biopsy | Basal lamina | Electron microscopy | Desmin | Myopathy
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 07/2010, Volume 87, Issue 1, p. 60
The mutational diversity and phenotypic consequences of the RET (MIM 164761) tyrosine kinase in Hirschsprung disease (HSCR [MIM 142623]) was examined to... 
Hirschsprung's disease | Tyrosine | Gene mutations | Analysis | Physiological aspects | Genetic aspects | Chemical properties | Transfer RNA
Journal Article
Biochimica et biophysica acta, ISSN 0006-3002, 04/2014, Volume 1840, Issue 4, p. 1368
Mitochondrial respiratory chain disorders (MRCDs) are some of the most common metabolic disorders presenting in childhood, however because of it clinical... 
Mitochondrial Diseases - genetics | Enzyme Replacement Therapy - trends | Molecular Targeted Therapy - trends | Age Factors | Humans | Biomedical Research - trends | Genetic Therapy - trends | Mitochondrial Diseases - therapy | Child | Genomics - trends | Exercise Therapy | Mitochondrial Diseases - diagnosis
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2246 - 2250
GMPPA encodes the GDP‐mannose pyrophosphorylase A protein (GMPPA). The function of GMPPA is not well defined, however it is a homolog of GMPPB which catalyzes... 
GDP‐mannose | exome sequencing | Triple‐A syndrome | intellectual disability | GMPPA | GDP-mannose | Triple-A syndrome | GENETICS & HEREDITY | GDP-MANNOSE PYROPHOSPHORYLASE | DISORDERS | GLYCOSYLATION | Microcephaly - genetics | Seizures - genetics | Humans | Child, Preschool | Intellectual Disability - complications | Craniofacial Abnormalities - physiopathology | Epilepsy - physiopathology | Mutation, Missense | Seizures - complications | Intellectual Disability - genetics | Seizures - physiopathology | Muscular Atrophy - physiopathology | Facies | Epilepsy - genetics | Female | Microcephaly - physiopathology | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Microcephaly - complications | Muscular Atrophy - genetics | Abnormalities, Multiple - physiopathology | Epilepsy - complications | Intellectual Disability - physiopathology | Exome - genetics | Phenotype | Pedigree | Nucleotidyltransferases - genetics | Heterozygote | Phosphates | Epilepsy | Genetic aspects | Seizures (Medicine) | High performance liquid chromatography | Sugars | Monosaccharides | Lymphoblasts | Intellectual disabilities | Guanosine | Craniofacial syndromes | Liquid chromatography | Glycosylation | Mannose | High-performance liquid chromatography | Western blotting | Neurological diseases | Genotype & phenotype | GDP | Microencephaly | Autonomic nervous system | Phosphate | Achalasia | Mutation | GDP-mannose pyrophosphorylase | Tears | Siblings | Seizures
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2016, Volume 25, Issue 1, pp. 79 - 84
Journal Article
by Heimer, Gali and Kerätär, Juha M and Riley, Lisa G and Balasubramaniam, Shanti and Eyal, Eran and Pietikäinen, Laura P and Hiltunen, J. Kalervo and Marek-Yagel, Dina and Hamada, Jeffrey and Gregory, Allison and Rogers, Caleb and Hogarth, Penelope and Nance, Martha A and Shalva, Nechama and Veber, Alvit and Tzadok, Michal and Nissenkorn, Andreea and Tonduti, Davide and Renaldo, Florence and Bamshad, Michael J and Leal, Suzanne M and Nickerson, Deborah A and Anderson, Peter and Annable, Marcus and Blue, Elizabeth Marchani and Buckingham, Kati J and Chin, Jennifer and Chong, Jessica X and Cornejo, Rodolfo and Davis, Colleen P and Frazar, Christopher and He, Zongxiao and Jarvik, Gail P and Jimenez, Guillaume and Johanson, Eric and Kolar, Tom and Krauter, Stephanie A and Luksic, Daniel and Marvin, Colby T and McGee, Sean and McGoldrick, Daniel J and Patterson, Karynne and Perez, Marcos and Phillips, Sam W and Pijoan, Jessica and Robertson, Peggy D and Santos-Cortez, Regie and Shankar, Aditi and Slattery, Krystal and Shively, Kathryn M and Siegel, Deborah L and Smith, Joshua D and Tackett, Monica and Wang, Gao and Wegener, Marc and Weiss, Jeffrey M and Wernick, Riana I and Wheeler, Marsha M and Yi, Qian and Kraoua, Ichraf and Panteghini, Celeste and Valletta, Lorella and Garavaglia, Barbara and Cowley, Mark J and Gayevskiy, Velimir and Roscioli, Tony and Silberstein, Jonathon M and Hoffmann, Chen and Raas-Rothschild, Annick and Tiranti, Valeria and Anikster, Yair and Christodoulou, John and Kastaniotis, Alexander J and Ben-Zeev, Bruria and Hayflick, Susan J and U Of Washington Ctr For Mendelian and University of Washington Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1229 - 1244
Journal Article