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American Journal of Roentgenology, ISSN 0361-803X, 06/2010, Volume 194, Issue 6, pp. W544 - W544
Journal Article
American Journal of Roentgenology, ISSN 0361-803X, 06/2010, Volume 194, Issue 6, p. W544
Journal Article
Journal of Maternal-Fetal and Neonatal Medicine, ISSN 1476-7058, 2018, pp. 1 - 3
Serine deficiency disorders can result from deficiency in one of three enzymes. Deficiency of the second enzyme, 3-phosphoserine aminotransferase (PSAT), has... 
seizures | Microcephaly | MRI | phosphoserine aminotransferase deficiency
Journal Article
by Gerstein, Hertzel C and Colhoun, Helen M and Dagenais, Gilles and Dagenais, Gilles R and Diaz, Rafael and Diaz, Sarahy and Lakshmanan, Mark and Pais, Prem and Probstfield, Jeffrey and Riesmeyer, Jeffrey S and Riddle, Matthew C and Rydén, Lars and Xavier, Denis and Atisso, Charles Messan and Dyal, Leanne and Hall, Stephanie and Hall, Charles and Rao-Melacini, Purnima and Wong, Gloria and Avezum, Alvaro and Basile, Jan and Chung, Ming-Min and Chung, Namsik and Chung, Jin-Wook and Conget, Ignacio and Cushman, William C and Franek, Edward and Hancu, Nicolae and Hanefeld, Christoph and Hanefeld, Markolf and Holt, Shaun and Jansky, Petr and Keltai, Matyas and Keltai, Katalin and Lanas, Fernando and Leiter, Lawrence A and Lopez-Jaramillo, Patricio and Cardona Munoz, Ernesto German and Pirags, Valdis and Pogosova, Nana and Raubenheimer, Peter J and Shaw, Jonathan E and Sheu, Wayne H-H and Temelkova-Kurktschiev, Theodora and Abella, Mercedes and Alebuena, Andrea and Almagro, Sandra and Amoroso, Eduardo and Anadon, Paula and Andreu, Elizabeth and Aristimuño, Guillermo and Arzadun, Maria and Barbieri, Maria and Barcudi, Raul and Bartolacci, Ines and Bolobanich, Gabriel and Bordonava, Anselmo and Bustamante Labarta, Miguel and Bustos, Betina and Caccavo, Alberto and Camino, Alejandra and Cantero, Maria and Carignano, Maria and Cartasegna, Luis and Cipullo, Marcela and Commendatore, Víctor and Conosciuto, Victoria and Costamagna, Osvaldo and Crespo, Claudia and Cuello, Jose and Cuneo, Carlos and Cusimano, Sandra and Dean, Sofia and Dituro, Claudio and Dominguez, Andrea and Farah, Miguel and Fernandez, Alberto and Fernandez, Florencia and Ferrari, Adriana and Flammia, Patricia and Fuentealba, Jose and Gallardo, Karina Beatriz and Garcia, Mar and Garcia, Celso and Garcia, Maria and Garcia Duran, Ruben and Garrido, Marcelo and Gavicola, Rodolfo and Gerbaudo, Claudio and Gilli, Graciela and Giotto, Ana Paula and Godoy Bolzán, Pedro and Gomez Vilamajo, Oscar and Guerlloy, Fernando and Guridi, Cristian and Gutierrez Garrido, Narcisa and Hasbani, Eduardo and Hermida, Sonia and Hominal, Miguel and Hrabar, Adrian and ... and REWIND Investigators
The Lancet, ISSN 0140-6736, 07/2019, Volume 394, Issue 10193, pp. 121 - 130
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2019, Volume 179, Issue 5, pp. 837 - 841
Autosomal dominant Dandy‐Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is... 
arachnoid cyst | occipital cephalocele | Dandy‐Walker | ADDWOC | NID1 | NIDOGEN-1 | DEFECTS | EGF-LIKE MOTIF | GENETICS & HEREDITY | Dandy-Walker | DANDY-WALKER MALFORMATION | BINDING | Phenotype | Genetic aspects | Nucleotide sequencing | Genomics | Lubrication and lubricants | DNA sequencing | Encephalocele | Phenotypes | Cysts | Arachnoid | Phenotypic variations
Journal Article
The Journal of Nuclear Medicine, ISSN 0161-5505, 01/2006, Volume 47, Issue 1, pp. 32 - 37
Journal Article