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The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 824 - 832
The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change... 
PROTEIN | GTPASES | SPECIFICITY | RECYCLING ENDOSOME | STRUCTURAL BASIS | MEMBRANE | IMAGE-ANALYSIS | GENETICS & HEREDITY | T-CELL LYMPHOMA | CILIOGENESIS | RHOA | Corpus Callosum - metabolism | White Matter - metabolism | Humans | Epilepsy - diagnostic imaging | Child, Preschool | Male | rab GTP-Binding Proteins - genetics | Guanosine Triphosphate - metabolism | Intellectual Disability - genetics | Optic Nerve Diseases - congenital | Optic Nerve Diseases - pathology | Epilepsy - genetics | Female | Guanosine Triphosphate - chemistry | Guanosine Diphosphate - chemistry | Guanosine Diphosphate - metabolism | Binding Sites | Child | rab GTP-Binding Proteins - deficiency | Amino Acid Sequence | Cerebellar Vermis - metabolism | Gene Expression | Muscle Hypotonia - genetics | Muscle Hypotonia - diagnostic imaging | Intellectual Disability - diagnostic imaging | Intellectual Disability - pathology | Models, Molecular | Optic Nerve Diseases - genetics | White Matter - pathology | Cerebellar Vermis - diagnostic imaging | Corpus Callosum - diagnostic imaging | Magnetic Resonance Imaging | Muscle Hypotonia - pathology | Phenotype | White Matter - diagnostic imaging | Optic Nerve Diseases - diagnostic imaging | Corpus Callosum - pathology | Adolescent | Protein Binding | rab GTP-Binding Proteins - chemistry | Mutation | Cerebellar Vermis - pathology | Epilepsy - pathology | Index Medicus | Report
Journal Article
Biological Psychiatry, ISSN 0006-3223, 2015, Volume 80, Issue 2, pp. 129 - 139
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Journal of Rheumatology, ISSN 0315-162X, 12/2016, Volume 43, Issue 12, pp. 2131 - 2135
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Pediatric Blood & Cancer, ISSN 1545-5009, 12/2018, Volume 65, Issue 12, pp. e27373 - n/a
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Brain, ISSN 0006-8950, 2017, Volume 140, Issue 6, pp. 1561 - 1578
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by Schoch, Kelly and Meng, Linyan and Szelinger, Szabolcs and Bearden, David R and Stray-Pedersen, Asbjorg and Busk, Oyvind L and Stong, Nicholas and Liston, Eriskay and Cohn, Ronald D and Scaglia, Fernando and Rosenfeld, Jill A and Tarpinian, Jennifer and Skraban, Cara M and Deardorff, Matthew A and Friedman, Jeremy N and Akdemir, Zeynep Coban and Walley, Nicole and Walley, Nicole M and Mikati, Mohamad A and Kranz, Peter G and Jasien, Joan and McConkie-Rosell, Allyn and McDonald, Marie and Wechsler, Stephanie Burns and Freemark, Michael and Kansagra, Sujay and Freedman, Sharon and Bali, Deeksha and Millan, Francisca and Bale, Sherri and Nelson, Stanley F and Nelson, Stan F and Lee, Brendan H and Lee, Hane and Lee, Paul R and Dorrani, Naghmeh and Grody, Wayne W and Strom, Samuel P and Vilain, Eric and Deignan, Joshua and Quintero-Rivera, Fabiola and Kantarci, Sibel and Mullegama, Sureni and Kang, Sung-Hae and Alejandro, Mercedes E and Bacino, Carlos A and Balasubramanyam, Ashok and Burrage, Lindsay C and Clark, Gary D and Craigen, William J and Dhar, Shweta U and Emrick, Lisa T and Graham, Brett H and Hanchard, Neil A and Jain, Mahim and Lalani, Seema R and Lewis, Richard A and Mashid, Azamian S and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Scott, Daryl A and Tran, Alyssa A and Bellen, Hugo J and Wangler, Michael F and Yamamoto, Shinya and Eng, Christine M and Muzny, Donna M and Ward, Patricia A and Yang, Yaping and Gropman, Andrea L and Goldstein, David B and Jiang, Yong-hui and Pena, Loren D.M and Shashi, Vandana and Spillmann, Rebecca C and Sullivan, Jennifer A and Beggs, Alan H and Briere, Lauren C and Cooper, Cynthia M and Donnell-Fink, Laurel A and Krieg, Elizabeth L and Krier, Joel B and Lincoln, Sharyn A and Loscalzo, Joseph and Maas, Richard L and MacRae, Calum A and Pallais, J. Carl and Rodan, Lance H and Silverman, Edwin K and Stoler, Joan M and Sweetser, David A and Walsh, Chris A and Esteves, Cecilia and Holm, Ingrid A and Kohane, Isaac S and Mazur, Paul and McCray, Alexa T and ... and UCLA Clinical Genomics Center and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 343 - 351
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Journal of the Neurological Sciences, ISSN 0022-510X, 2016, Volume 371, pp. 105 - 111
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PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0161036 - e0161036
Journal Article