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European Journal of Paediatric Neurology, ISSN 1090-3798, 2013, Volume 18, Issue 1, pp. 66 - 71
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2731 - 2736
Nervous system development is highly dependent on the function of microtubules, which are assembled from tubulin heterodimers containing several - and -tubulin... 
TUBB3 | Tubulinopathies | Tubulin genes | MIGRATION | POLYMICROGYRIA | GUIDANCE | AUTISM SPECTRUM DISORDERS | CORTICAL DEVELOPMENT | RED HAIR | tubulin genes | GENE | GENETICS & HEREDITY | tubulinopathies | MUTATIONS | KNOCKDOWN | EXPRESSION | Twins | Tubulins | Nervous system diseases
Journal Article
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1512 - 1520
An intact and dynamic microtubule cytoskeleton is crucial for the development, differentiation, and maintenance of the mammalian cortex. Variants in a host of... 
NEURODEGENERATIVE ENCEPHALOPATHY | SPINAL MUSCULAR-ATROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ISLANDS | MUTATIONS | TUBULIN | Neuroimaging | Phenotypes | Neurodegenerative diseases | Cortex | Chaperones | Survival | Patients | Genetic counseling | Tubulin | Magnetic resonance imaging | Neurodegeneration | Encephalopathy | Cytoskeleton
Journal Article
by Ivanovski, Ivan and Djuric, Olivera and Caraffi, Stefano Giuseppe and Santodirocco, Daniela and Pollazzon, Marzia and Rosato, Simonetta and Cordelli, Duccio Maria and Abdalla, Ebtesam and Accorsi, Patrizia and Adam, Margaret P and Ajmone, Paola Francesca and Badura-Stronka, Magdalena and Baldo, Chiara and Baldi, Maddalena and Bayat, Allan and Bigoni, Stefania and Bonvicini, Federico and Breckpot, Jeroen and Callewaert, Bert and Cocchi, Guido and Cuturilo, Goran and De Brasi, Daniele and Devriendt, Koenraad and Dinulos, Mary Beth and Hjortshøj, Tina Duelund and Epifanio, Roberta and Faravelli, Francesca and Fiumara, Agata and Formisano, Debora and Giordano, Lucio and Grasso, Marina and Grønborg, Sabine and Iodice, Alessandro and Iughetti, Lorenzo and Kuburovic, Vladimir and Kutkowska-Kazmierczak, Anna and Lacombe, Didier and Lo Rizzo, Caterina and Luchetti, Anna and Malbora, Baris and Mammi, Isabella and Mari, Francesca and Montorsi, Giulia and Moutton, Sebastien and Møller, Rikke S and Muschke, Petra and Nielsen, Jens Erik Klint and Obersztyn, Ewa and Pantaleoni, Chiara and Pellicciari, Alessandro and Pisanti, Maria Antonietta and Prpic, Igor and Poch-Olive, Maria Luisa and Raviglione, Federico and Renieri, Alessandra and Ricci, Emilia and Rivieri, Francesca and Santen, Gijs W and Savasta, Salvatore and Scarano, Gioacchino and Schanze, Ina and Selicorni, Angelo and Silengo, Margherita and Smigiel, Robert and Spaccini, Luigina and Sorge, Giovanni and Szczaluba, Krzysztof and Tarani, Luigi and Tone, Luis Gonzaga and Toutain, Annick and Trimouille, Aurelien and Valera, Elvis Terci and Vergano, Samantha Schrier and Zanotta, Nicoletta and Zenker, Martin and Conidi, Andrea and Zollino, Marcella and Rauch, Anita and Zweier, Christiane and Garavelli, Livia
Genetics in Medicine, ISSN 1098-3600, 09/2018, Volume 20, Issue 9, pp. 965 - 975
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2017, Volume 19, Issue 6, pp. 691 - 700
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2731 - 2736
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2731 - 2736
Nervous system development is highly dependent on the function of microtubules, which are assembled from tubulin heterodimers containing several α‐ and... 
tubulin genes | TUBB3 | tubulinopathies | Sequence Deletion | Twins, Monozygotic - genetics | Humans | Infant | Tubulin - genetics | Developmental Disabilities - genetics | Brain - abnormalities | Magnetic Resonance Imaging | Comparative Genomic Hybridization | Base Pairing - genetics | Facies | Infant, Newborn | Chromosomes, Human, Pair 16 - genetics
Journal Article
Ugeskrift for Laeger, ISSN 0041-5782, 2017, Volume 179, Issue 16, pp. 1377 - 1381
Journal Article
Ugeskrift for laeger, 04/2017, Volume 179, Issue 17
The majority of rare congenital disorders and syndromes have a genetic cause, but the diagnostic rate using standard workup is only around 50%. Whole exome and... 
Whole Exome Sequencing - standards | Humans | Incidental Findings | Genetic Diseases, Inborn - diagnosis | Whole Exome Sequencing - methods | Syndrome | Whole Exome Sequencing - ethics
Journal Article
Ugeskrift for laeger, 04/2017, Volume 179, Issue 17
Journal Article
2011, First, JIMD Reports, ISBN 9783642177071, Volume 1
Peroxisome biogenesis disorders (PBDs) are a group of autosomal-recessive developmental and progressive metabolic diseases leading to the Zellweger spectrum... 
Human Genetics | Pediatrics | Biomedicine | Human Physiology | Metabolic Diseases | Zellweger syndrome | Diagnosis | Peroxisome biogenesis disorder | LCL | D-bifunctional protein deficiency
Book Chapter
by Johnson, Brett V and Kumar, Raman and Oishi, Sabrina and Alexander, Suzy and Kasherman, Maria and Vega, Michelle Sanchez and Ivancevic, Atma and Gardner, Alison and Domingo, Deepti and Corbett, Mark and Parnell, Euan and Yoon, Sehyoun and Oh, Tracey and Lines, Matthew and Lefroy, Henrietta and Kini, Usha and Van Allen, Margot and Grønborg, Sabine and Mercier, Sandra and Küry, Sébastien and Bézieau, Stéphane and Pasquier, Laurent and Raynaud, Martine and Afenjar, Alexandra and Billette de Villemeur, Thierry and Keren, Boris and Désir, Julie and Van Maldergem, Lionel and Marangoni, Martina and Dikow, Nicola and Koolen, David A and VanHasselt, Peter M and Weiss, Marjan and Zwijnenburg, Petra and Sa, Joaquim and Reis, Claudia Falcao and López-Otín, Carlos and Santiago-Fernández, Olaya and Fernández-Jaén, Alberto and Rauch, Anita and Steindl, Katharina and Joset, Pascal and Goldstein, Amy and Madan-Khetarpal, Suneeta and Infante, Elena and Zackai, Elaine and Mcdougall, Carey and Narayanan, Vinodh and Ramsey, Keri and Mercimek-Andrews, Saadet and Pena, Loren and Shashi, Vandana and Schoch, Kelly and Sullivan, Jennifer A and Pinto E Vairo, Filippo and Pichurin, Pavel N and Ewing, Sarah A and Barnett, Sarah S and Klee, Eric W and Perry, M Scott and Koenig, Mary Kay and Keegan, Catherine E and Schuette, Jane L and Asher, Stephanie and Perilla-Young, Yezmin and Smith, Laurie D and Rosenfeld, Jill A and Bhoj, Elizabeth and Kaplan, Paige and Li, Dong and Oegema, Renske and van Binsbergen, Ellen and van der Zwaag, Bert and Smeland, Marie Falkenberg and Cutcutache, Ioana and Page, Matthew and Armstrong, Martin and Lin, Angela E and Steeves, Marcie A and Hollander, Nicolette den and Hoffer, Mariëtte J V and Reijnders, Margot R F and Demirdas, Serwet and Koboldt, Daniel C and Bartholomew, Dennis and Mosher, Theresa Mihalic and Hickey, Scott E and Shieh, Christine and Sanchez-Lara, Pedro A and Graham, Jr, John M and Tezcan, Kamer and Schaefer, G B and