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North Carolina medical journal, ISSN 0029-2559, 01/2019, Volume 80, Issue 1, pp. 32 - 36
Newborn screening is a system that provides early identification and treatment of infants with disorders prior to permanent disability or death. A successful... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2002, Volume 36, Issue 2, p. 89
ObjectivesThe primary purpose of this study was to determine if methicillin-resistant Staphylococcus aureus (MRSA) was present on the surface of oxygen... 
Journal Article
Hastings Center Report, ISSN 0093-0334, 07/2018, Volume 48, Issue S2, pp. S18 - S19
Massively parallel sequencing, also known as next‐generation sequencing, has the potential to significantly improve newborn screening programs in the United... 
MEDICAL ETHICS | SOCIAL SCIENCES, BIOMEDICAL | DEFICIENCY | HEALTH CARE SCIENCES & SERVICES | ETHICS | Infants (Newborn) | Usage | Wellness programs | Analysis | Nucleotide sequencing | Planning | Medical screening | Health aspects | Public health | DNA sequencing
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2016, Volume 18, Issue 1, p. 107
Journal Article
Pediatrics, ISSN 0031-4005, 01/2016, Volume 137, pp. S16 - S16
Advances in genomic sequencing technology have raised fundamental challenges to the traditional ways genomic information is communicated. These challenges will... 
Journal Article
REHABILITATION NURSING, ISSN 0278-4807, 07/2019, Volume 44, Issue 4, pp. 213 - 220
Purpose Earlier, we reported development and initial testing of a rapid, low burden measure of wheelchair seated posture (the Seated Posture Scale [SPS]) for... 
ALIGNMENT | Geriatric | NURSING | Wheelchair | Measure | REHABILITATION | Veteran | Nursing home | Posture
Journal Article
by Sims, Rebecca and Van Der Lee, Sven J and Naj, Adam C and Bellenguez, Céline and Badarinarayan, Nandini and Jakobsdottir, Johanna and Kunkle, Brian W and Boland, Anne and Raybould, Rachel and Bis, Joshua C and Martin, Eden R and Grenier-Boley, Benjamin and Heilmann-Heimbach, Stefanie and Chouraki, Vincent and Kuzma, Amanda B and Sleegers, Kristel and Vronskaya, Maria and Ruiz, Agustin and Graham, Robert R and Olaso, Robert and Hoffmann, Per and Grove, Megan L and Vardarajan, Badri N and Hiltunen, Mikko and Nöthen, Markus M and White, Charles C and Hamilton-Nelson, Kara L and Epelbaum, Jacques and Maier, Wolfgang and Choi, Seung-Hoan and Beecham, Gary W and Dulary, Cécile and Herms, Stefan and Smith, Albert V and Funk, Cory C and Derbois, Céline and Forstner, Andreas J and Ahmad, Shahzad and Li, Hongdong and Bacq, Delphine and Harold, Denise and Satizabal, Claudia L and Valladares, Otto and Squassina, Alessio and Thomas, Rhodri and Brody, Jennifer A and Qu, Liming and Sánchez-Juan, Pascual and Morgan, Taniesha and Wolters, Frank J and Zhao, Yi and Garcia, Florentino Sanchez and Denning, Nicola and Fornage, Myriam and Malamon, John and Naranjo, Maria Candida Deniz and Majounie, Elisa and Mosley, Thomas H and Dombroski, Beth and Wallon, David and Lupton, Michelle K and Dupuis, Josée and Whitehead, Patrice and Fratiglioni, Laura and Medway, Christopher and Jian, Xueqiu and Mukherjee, Shubhabrata and Keller, Lina and Brown, Kristelle and Lin, Honghuang and Cantwell, Laura B and Panza, Francesco and McGuinness, Bernadette and Moreno-Grau, Sonia and Burgess, Jeremy D and Solfrizzi, Vincenzo and Proitsi, Petra and Adams, Hieab H and Allen, Mariet and Seripa, Davide and Pastor, Pau and Cupples, L Adrienne and Price, Nathan D and Hannequin, Didier and Frank-García, Ana and Levy, Daniel and Chakrabarty, Paramita and Caffarra, Paolo and Giegling, Ina and Beiser, Alexa S and Giedraitis, Vilmantas and Hampel, Harald and Garcia, Melissa E and Wang, Xue and Lannfelt, Lars and Mecocci, Patrizia and Eiriksdottir, Gudny and Crane, Paul K and Pasquier, Florence and Boccardi, Virginia and ... and EADI and GERAD PERADES and ARUKConsortium and CHARGE and ADGC and GERAD/PERADES, CHARGE, ADGC, EADI and ARUK Consortium and Stockholms universitet and Centrum för forskning om äldre och åldrande (ARC), (tills m KI) and Samhällsvetenskapliga fakulteten
Nature Genetics, ISSN 1061-4036, 09/2017, Volume 49, Issue 9, pp. 1373 - 1384
Journal Article
Family Relations, ISSN 0197-6664, 02/2014, Volume 63, Issue 1, pp. 85 - 100
Journal Article
Nature communications, ISSN 2041-1723, 2013, Volume 4, Issue 1, pp. 1952 - 1952
Excitation-contraction coupling, the process that regulates contractions by skeletal muscles, transduces changes in membrane voltage by activating release of... 
SKELETAL-MUSCLE | RELAXED MUTANTS | CALCIUM-RELEASE CHANNEL | ZEBRAFISH | PROTEIN | RYANODINE RECEPTOR | MULTIDISCIPLINARY SCIENCES | CA2+ CHANNELS | CONGENITAL MYOPATHY | MUTATIONS | REM | Adaptor Proteins, Signal Transducing - chemistry | Central Nervous System - metabolism | Excitation Contraction Coupling | Malignant Hyperthermia - physiopathology | Humans | Embryo, Nonmammalian - metabolism | Central Nervous System - pathology | Molecular Sequence Data | Ryanodine Receptor Calcium Release Channel - metabolism | Cleft Palate - genetics | Myotonia Congenita - physiopathology | RNA, Messenger - metabolism | Touch | Zebrafish - embryology | Mutation, Missense - genetics | Malignant Hyperthermia - genetics | Organ Specificity - genetics | Nerve Tissue Proteins - chemistry | Myofibrils - ultrastructure | Base Sequence | Swimming | Myotonia Congenita - genetics | Amino Acid Sequence | Zebrafish Proteins - chemistry | Zebrafish Proteins - metabolism | RNA, Messenger - genetics | Cleft Palate - physiopathology | Myotonia Congenita - pathology | Mutation - genetics | Nerve Tissue Proteins - genetics | Zebrafish - genetics | Nerve Tissue Proteins - metabolism | Phenotype | Animals | Adaptor Proteins, Signal Transducing - genetics | Alleles | Myofibrils - metabolism | Zebrafish Proteins - genetics | Adaptor Proteins, Signal Transducing - metabolism
Journal Article
by Kunkle, BW and Grenier-Boley, B and Sims, R and Bis, JC and Damotte, V and Naj, AC and Boland, A and Vronskaya, M and van der Lee, SJ and Amlie-Wolf, A and Bellenguez, C and Frizatti, A and Chouraki, V and Martin, ER and Sleegers, K and Badarinarayan, N and Jakobsdottir, J and Hamilton-Nelson, KL and Moreno-Grau, S and Olaso, R and Raybould, R and Chen, YN and Kuzma, AB and Hiltunen, M and Morgan, T and Ahmad, S and Vardarajan, BN and Epelbaum, J and Hoffmann, P and Boada, M and Beecham, GW and Garnier, JG and Harold, D and Fitzpatrick, AL and Valladares, O and Moutet, ML and Gerrish, A and Smith, AV and Qu, LM and Bacq, D and Denning, N and Jian, XQ and Zhao, Y and Del Zompo, M and Fox, NC and Choi, SH and Mateo, I and Hughes, JT and Adams, HH and Malamon, J and Sanchez-Garcia, F and Patel, Y and Brody, JA and Dombroski, BA and Naranjo, MCD and Daniilidou, M and Eiriksdottir, G and Mukherjee, S and Wallon, D and Uphill, J and Aspelund, T and Cantwell, LB and Garzia, F and Galimberti, D and Hofer, E and Butkiewicz, M and Fin, B and Scarpini, E and Sarnowski, C and Bush, WS and Meslage, S and Kornhuber, J and White, CC and Song, Y and Barber, RC and Engelborghs, S and Sordon, S and Voijnovic, D and Adams, PM and Vandenberghe, R and Mayhaus, M and Cupples, LA and Albert, MS and De Deyn, PP and Gu, W and Himali, JJ and Beekly, D and Squassina, A and Hartmann, AM and Orellana, A and Blacker, D and Rodriguez-Rodriguez, E and Lovestone, S and Garcia, ME and Doody, RS and Munoz-Fernadez, C and Sussams, R and Lin, HH and Fairchild, TJ and Benito, YA and ... and Cohorts Heart Aging Res Genomic Ep and Alzheimer Dis Genetics Consortium and European Alzheimers Dis Initiative and Genetic Environm Risk AD Defining and Alzheimer Disease Genetics Consortium (ADGC) and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE) and European Alzheimer’s Disease Initiative (EADI) and Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES)
NATURE GENETICS, ISSN 1061-4036, 03/2019, Volume 51, Issue 3, pp. 414 - 414
Journal Article
Journal Article
Cold Spring Harbor Perspectives in Medicine, ISSN 2157-1422, 12/2015, Volume 5, Issue 12, p. a023150
Journal Article