Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations
Starosta, Rodrigo Tzovenos, Hou, Ying-Chen Claire, Leestma, Katelyn, Singh, Prapti, Viehl, Luke, Manwaring, Linda, Granadillo, Jorge Luis, Schroeder, Molly C., Colombo, Jamie N., Whitehead, Halana, Dickson, Patricia Irene, Hulbert, Monica L., Nguyen, Hoanh Thi
Published in Frontiers in pediatrics (28.09.2022)
Published in Frontiers in pediatrics (28.09.2022)
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Journal Article
PTPN4 germline variants result in aberrant neurodevelopment and growth
Chmielewska, Joanna J., Burkardt, Deepika, Granadillo, Jorge Luis, Slaugh, Rachel, Morgan, Shamile, Rotenberg, Joshua, Keren, Boris, Mignot, Cyril, Escobar, Luis, Turnpenny, Peter, Zuteck, Melissa, Seaver, Laurie H., Ploski, Rafal, Dziembowska, Magdalena, Wynshaw-Boris, Anthony, Adegbola, Abidemi
Published in HGG advances (08.07.2021)
Published in HGG advances (08.07.2021)
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Journal Article
Coarsening kinetics of alloy-doped nanoporous metals
Granadillo, Luis, Snyder, Joshua, Xia, Zhiyong, McCue, Ian
Published in Scripta materialia (15.01.2025)
Published in Scripta materialia (15.01.2025)
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Journal Article
WNT5A haploinsufficiency and gestational diabetes in a newborn with multiple congenital anomalies: a likely gene-environment interaction
Kahle, Juliette, Singh, Prapti, Wein, Alexander, Quirin, Kayla, Cao, Yang, De Luque, Jorge Luis Granadillo
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
eP432 - WNT5A haploinsufficiency and gestational diabetes in a newborn with multiple congenital anomalies: a likely gene-environment interaction
Kahle, Juliette, Singh, Prapti, Wein, Alexander, Quirin, Kayla, Cao, Yang, De Luque, Jorge Luis Granadillo
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia
Jorge Luis Granadillo De Luque, Manuel Luna, Leonardo Hernández-Reina, Clara Arteaga-Diaz, Juan Manuel Arteaga-Díaz
Published in Case reports (Universidad Nacional de Colombia) (01.01.2016)
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Published in Case reports (Universidad Nacional de Colombia) (01.01.2016)
Journal Article
Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11
Starosta, Rodrigo Tzovenos, Granadillo, Jorge Luis, Patel, Kalyani R, Finegold, Milton J, Stoll, Janis, Kulkarni, Sakil
Published in Pediatric and developmental pathology (01.03.2022)
Published in Pediatric and developmental pathology (01.03.2022)
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Journal Article
Genética de la demencia frontotemporal
Granadillo de Luque, Jorge Luis, Zarante, Ignacio
Published in Revista colombiana de psiquiatría (01.03.2008)
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Published in Revista colombiana de psiquiatría (01.03.2008)
Journal Article
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
Granadillo, Jorge Luis, P.A. Stegmann, Alexander, Guo, Hui, Xia, Kun, Angle, Brad, Bontempo, Kelly, Ranells, Judith D, Newkirk, Patricia, Costin, Carrie, Viront, Joleen, Stumpel, Constanze T, Sinnema, Margje, Panis, Bianca, Pfundt, Rolph, Krapels, Ingrid P C, Klaassens, Merel, Nicolai, Joost, Li, Jinliang, Jiang, Yuwu, Marco, Elysa, Canton, Ana, Latronico, Ana Claudia, Montenegro, Luciana, Leheup, Bruno, Bonnet, Celine, M. Amudhavalli, Shivarajan, Lawson, Caitlin E, McWalter, Kirsty, Telegrafi, Aida, Pearson, Richard, Kvarnung, Malin, Wang, Xia, Bi, Weimin, Rosenfeld, Jill Anne, Shinawi, Marwan
Published in Journal of medical genetics (01.10.2020)
Published in Journal of medical genetics (01.10.2020)
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Journal Article
Fusion of horizontal and vertical sweeps for weather detection
St. John, Edward A, Meyer, Nathanael A, Fersdahl, Mark C, Granadillo, Luis R, White, Derek G
Year of Publication 30.11.2021
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Year of Publication 30.11.2021
Patent
eP254: Novel variant in AHDC1 leading to Xia-Gibbs syndrome: Expansion of the phenotype
Starosta, Rodrigo, Leestma, Katelyn, Slaugh, Rachel, Granadillo De Luque, Jorge Luis
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
System and method for enabling display of textual weather information on an aviation display
SISHTLA VENKATA A, FERSDAHL MARK C, GRANADILLO LUIS R, ST. JOHN EDWARD A
Year of Publication 03.06.2014
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Year of Publication 03.06.2014
Patent
Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations
Starosta, Rodrigo Tzovenos, Hou, Ying-Chen Claire, Leestma, Katelyn, Singh, Prapti, Viehl, Luke, Manwaring, Linda, Granadillo, Jorge Luis, Schroeder, Molly C, Colombo, Jamie N, Whitehead, Halana, Dickson, Patricia Irene, Hulbert, Monica L, Nguyen, Hoanh Thi
Published in Frontiers in pediatrics (01.01.2022)
Published in Frontiers in pediatrics (01.01.2022)
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Report
Genética de la demencia frontotemporal
Zarante, Ignacio, Granadillo de Luque, Jorge Luis
Published in Revista colombiana de psiquiatría (01.03.2008)
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Published in Revista colombiana de psiquiatría (01.03.2008)
Journal Article