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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2019, Volume 14, Issue 1, pp. 118 - 21
Journal Article
Journal Article
by Carbon, S and Dietze, H and Lewis, S.E and Mungall, C.J and Munoz-Torres, M.C and Basu, S and Chisholm, R.L and Dodson, R.J and Fey, P and Thomas, Paul D and Mi, H and Muruganujan, A and Huang, X and Poudel, S and Hu, J.C and Aleksander, S.A and McIntosh, B.K and Renfro, D.P and Siegele, D.A and Antonazzo, G and Attrill, H and Brown, N.H and Marygold, S.J and Mc-Quilton, P and Ponting, L and Millburn, G.H and Rey, A.J and Stefancsik, R and Tweedie, S and Falls, K and Schroeder, A.J and Courtot, M and Osumi-Sutherland, D and Parkinson, H and Roncaglia, P and Lovering, R.C and Foulger, R.E and Huntley, R.P and Denny, P and Campbell, N.H and Kramarz, B and Patel, S and Buxton, J.L and Umrao, Z and Deng, A.T and Alrohaif, H and Mitchell, K and Ratnaraj, F and Omer, W and Rodríguez-López, M and C. Chibucos, M and Giglio, M and Nadendla, S and Duesbury, M.J and Koch, M and Meldal, B.H.M and Melidoni, A and Porras, P and Orchard, S and Shrivastava, A and Chang, H.Y and Finn, R.D and Fraser, M and Mitchell, A.L and Nuka, G and Potter, S and Rawlings, N.D and Richardson, L and Sangrador-Vegas, A and Young, S.Y and Blake, J.A and Christie, K.R and Dolan, M.E and Drabkin, H.J and Hill, D.P and Ni, L and Sitnikov, D and Harris, M.A and Hayles, J and Oliver, S.G and Rutherford, K and Wood, V and Bahler, J and Lock, A and De Pons, J and Dwinell, M and Shimoyama, M and Laulederkind, S and Hayman, G.T and Tutaj, M and Wang, S.-J and D'Eustachio, P and Matthews, L and Balhoff, J.P and Balakrishnan, R and Binkley, G and Cherry, J.M and Costanzo, M.C and Engel, S.R and Miyasato, S.R and ...
Nucleic Acids Research, ISSN 0305-1048, 01/2017, Volume 45, Issue 1, pp. D331 - D338
Journal Article
Scientific reports, ISSN 2045-2322, 2015, Volume 5, Issue 1, p. 17467
... With Particular Sensory Pairings Jean-Paul Noel1,2, Mark T. Wallace2,3,4,5,6, Emily Orchard-Mills7, David Alais7 & Erik Van der Burg7,8 Perception and behavior... 
PERCEPTION | MULTISENSORY TEMPORAL INTEGRATION | RECALIBRATION | BINDING WINDOW | DETERMINANTS | SIMULTANEITY | MULTIDISCIPLINARY SCIENCES | NEURONS | Adult | Female | Male | Sensation - physiology | Humans | Perceptions | Temporal perception | Sensory integration | Information processing
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 7858 - 10
... in cerebral adrenoleukodystrophy paul J. orchard1, todd W. Markowski2, LeeAnn Higgins2, Gerald V. Raymond3, David R. Nascene 4, Weston p. Miller1, elizabeth I. pierpont 5... 
APOLIPOPROTEIN-E EPSILON-4 | E GENOTYPE | PROTEIN | PLASMA | HEMATOPOIETIC-CELL TRANSPLANTATION | MULTIDISCIPLINARY SCIENCES | DISEASE | INJURY | X-LINKED ADRENOLEUKODYSTROPHY | CHITOTRIOSIDASE | BRAIN | Apolipoprotein E4 | Neurodegenerative diseases | Gadolinium | Heredity | Cerebrospinal fluid | Males | Hemopoiesis | Gelatinase A | Neurological diseases | Adrenoleukodystrophy | Magnetic resonance imaging | Gene frequency | Genotypes
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 3681 - 10
... detection in mucopolysaccharidosis type 1 Elina Makino1, Helen Klodnitsky1, John Leonard2, James Lillie1, Troy C. Lund3, John Marshall2, Jennifer Nietupski2, Paul J... 
GLYCOSAMINOGLYCANS | MULTIDISCIPLINARY SCIENCES | MARKERS | DEGRADATION | HEPARAN-SULFATE | CEREBROSPINAL-FLUID | FIBROBLASTS | CHILDREN | Urine | Biomarkers | Lysosomes | Mucopolysaccharidosis | Cerebrospinal fluid | Hereditary diseases
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2010, Volume 107, Issue 22, pp. 10290 - 10295
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 4994 - 3
... Nietupski2, Paul J. Orchard3, Weston P. Miller3, Clifford Phaneuf1, Drew Tietz1, Mariet L. Varban1, Marissa Donovan1 & Alexey Belenki1 Correction to: Scientific Reports... 
Mucopolysaccharidosis
Journal Article
Science, ISSN 0036-8075, 04/2018, Volume 360, Issue 6385, pp. 204 - 208
Journal Article
Biology of blood and marrow transplantation, ISSN 1083-8791, 03/2018, Volume 24, Issue 3, pp. S424 - S425
Journal Article
Biology of blood and marrow transplantation, ISSN 1083-8791, 03/2018, Volume 24, Issue 3, p. S309
Journal Article
British Journal of Haematology, ISSN 0007-1048, 06/2015, Volume 169, Issue 5, pp. 711 - 718
Journal Article
Genetics, ISSN 0016-6731, 05/2017, Volume 206, Issue 1, pp. 91 - 104
We address the task of genotype imputation to a dense reference panel given genotype likelihoods computed from ultralow coverage sequencing as inputs. In this... 
Imputation from genotype likelihoods |