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Journal Article
Journal of Child Neurology, ISSN 0883-0738, 2/2019, Volume 34, Issue 2, pp. 74 - 80
AIMP1/p43, is a noncatalytic component of the mammalian multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their cognate tRNAs. AIMP1... 
seizures | leukodystrophy | spasticity | neurodevelopment | intellectual disability | GENE | TRANSFER-RNA SYNTHETASE | DISORDER | PEDIATRICS | MUTATIONS | INTERMEDIATE-FILAMENTS | CLINICAL NEUROLOGY
Journal Article
Endocrine Journal, ISSN 0918-8959, 2018
Glucocorticoid resistance syndrome (GRS) is a rare genetic disorder caused by inactivating mutations of the NR3C1 gene which encodes the glucocorticoid... 
NR3C1 gene | Glucocorticoid resistance | Glucocorticoid receptor | Chrousos syndrome
Journal Article
Journal Article
Developmental Disabilities Research Reviews, ISSN 1940-5510, 06/2013, Volume 17, Issue 3, pp. 187 - 196
Journal Article
Developmental Disabilities Research Reviews, ISSN 1940-5510, 06/2013, Volume 17, Issue 3, pp. 187 - 196
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
Translational science of rare diseases, ISSN 2214-6490, 11/2016, Volume 1, Issue 2, p. 111
Journal Article
12/2018
Phys. Rev. D 100, 012006 (2019) A search is conducted for the electroweak pair production of a chargino and a neutralino $pp \rightarrow \tilde\chi^\pm_1... 
Physics - High Energy Physics - Experiment
Journal Article
Brain, ISSN 0006-8950, 11/2002, Volume 125, Issue 11, pp. 2507 - 2522
Journal Article
SAE technical paper series, Volume 2014-32-0063.
In the present work, an Auto Regressive Moving Average (ARMA) model and a Discrete Wavelet Transform (DWT) are applied on vibrational signals, acquired by an... 
Knock | Vibration | Engine cylinders
eBook
Brain, ISSN 0006-8950, 11/2002, Volume 125, Issue 11, pp. 2507 - 2507
Subcortical band heterotopia (SBH) or double cortex syndrome is a neuronal migration disorder, which occurs very rarely in males: to date, at least 110 females... 
Journal Article
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