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Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 1, pp. 36 - 45
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2016, Volume 24, pp. 652 - 659
The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2011, Volume 19, Issue 1, pp. 56 - 63
The X-linked creatine transporter defect is caused by mutations in the SLC6A8 gene. Until now, 66 synonymous and intronic variants in SLC6A8 were detected in... 
Journal Article
Genome Medicine, ISSN 1756-994X, 2016, Volume 8, Issue 1, pp. 106 - 106
BACKGROUND: Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in... 
Metalloendopeptidases - genetics | Amino Acid Sequence | Genes, Recessive - genetics | Heart Defects, Congenital - etiology | Humans | Infant | Male | Sudden Infant Death - etiology | Syndrome | Muscle Hypotonia - etiology | Sequence Homology, Amino Acid | Phenotype | Pedigree | Adult | Female | Infant, Newborn | Index Medicus
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 2010, Volume 25, Issue 8, pp. 1009 - 1012
X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine transporter. Reduction in creatine... 
Journal Article
American Journal of Applied Sciences, ISSN 1546-9239, 2009, Volume 6, Issue 2, pp. 290 - 295
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2013, Volume 50, Issue 7, pp. 463 - 472
Background: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports... 
Journal Article
Journal Article
by Boscari, F and Messori, M and Rabbone, I and Rabbone, I and Bonfanti, R and Sabbion, A and Iafusco, D and Schiaffini, R and Visentin, R and Visentin, R and Calore, R and Leal, Y and Galasso, S and Galasso, S and Galderisi, A and Vallone, V and Di Palma, F and Losiouk, E and Lanzola, G and Tinti, T and Rigamonti, A and Marigliano, M and Zanfardino, A and Rapini, N and Avogaro, A and Chernavvsky, D and Magni, L and Cobelli, C and Bruttomesso, D and Kovatchev, B and Barnard, K and Bergenstal, R and Laffel, L and Weissberg-Benchell, J and Hood, K and Heinemann, L and Sullivan, S and Miller, K.M and Frontino, G and Rigamonti, A and Bonura, C and Favalli, V and Breton, M and Lepore, G and Bonfanti, R and Bonfanti, R and Bozzetto, L and Di Blasi, V and Girelli, A and Grassi, G and Iafusco, D and Rabbone, I and Schiaffini, R and Laviola, L and Minuto, N and Ignaccolo, G and Iafusco, D and Lombardo, F and Cherubini, V and Frongia, A.P and Pistorio, A and Marigliano, M and Toni, S and Scaramuzza, A.E and Forlenza, G and Wadwa, R.P and Messer, L and Bequette, B.W and Cameron, F and Howsmon, D and Huyett, L and Dassau, E and Doyle, F.J and Patek, S and Schertz, E and Mauritzen, E and Mandell, A and DeSalvo, D and Ly, T.T and Buckingham, B.A and Festa, C and Bongiovanni, M and Mattei, L and Colatrella, A and Stewart, Z and Pate, T and Danne, T and Kordonouri, O and Kordonouri, O and Kordonouri, O and Lange, K and Spaniolas, K and Wohlgemuth, S.D and Stefan, D and Homan, M and Orel, R and Battelino, T and Sinha-Gregory, S and Gerber, L and Ferrari, M and ...
Diabetes Technology & Therapeutics, ISSN 1520-9156, 02/2016, Volume 18, Issue S1, pp. A-1 - A-140
Journal Article
Obstetrical & Gynecological Survey, ISSN 0029-7828, 07/2018, Volume 73, Issue 7, pp. 385 - 387
(Abstracted from JAMA 2018;319(5):474–482)Several single-site, active-case ascertainment studies in the United States have shown widely varying prevalence... 
OBSTETRICS & GYNECOLOGY
Journal Article
Sensors (Switzerland), ISSN 1424-8220, 05/2015, Volume 15, Issue 5, pp. 11665 - 11684
Journal Article
Procedia - Social and Behavioral Sciences, ISSN 1877-0428, 05/2014, Volume 129, pp. 75 - 81
This study attempted to investigate the relationship between emotional intelligence and job performance of call centre agents. Two call centres located at... 
Call Centre Agents | Job Performance | Emotional Intelligence (EI)
Journal Article
Avian Pathology, ISSN 0307-9457, 06/2001, Volume 30, Issue 3, pp. 257 - 267
The effects of dual infection of 1-day-old broiler chicks with a chicken isolate of avian pneumovirus (APV) and a pool of pathogenic Escherichia coli strains... 
STRAINS | ANTIBODIES | MIXTURES | SWOLLEN-HEAD-SYNDROME | TURKEY RHINOTRACHEITIS-VIRUS | BREEDER CHICKENS | PATHOGEN-FREE CHICKENS | VETERINARY SCIENCES | BRONCHITIS VIRUS | Pathology | Birds | Bacteria | Viruses
Journal Article
Journal of Construction in Developing Countries, ISSN 1823-6499, 2013, Volume 18, Issue 1, pp. 19 - 32
  Some of the mailing addresses and email addresses obtained from the sources may be incorrect or invalid, especially when the information provided may be... 
Risk | Malaysia | Risk management | Construction industry | Probability | Response rates | Questionnaires | Productivity | Construction | Management | Trends | Players
Journal Article
International Food Research Journal, ISSN 1985-4668, 2016, Volume 23, Issue 6, pp. 2675 - 2680
This study evaluated the effects of Averrhoa bilimbi juice extract and storage temperature on lipid oxidation and microbial spoilage of spent chicken meat.... 
Marination Lipid oxidation | Spent chicken meat | Averrhoa bilimbi | Microbial spoilage | FRUITS | ANTIOXIDANT | FOOD SCIENCE & TECHNOLOGY | Lipid oxidation | Marination | BLEEDING EFFICIENCY | BEEF | HALAL SLAUGHTER
Journal Article
Artificial Life and Robotics, ISSN 1433-5298, 6/2011, Volume 16, Issue 1, pp. 121 - 124
Journal Article
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