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Cold Spring Harbor perspectives in medicine, 09/2019
Neurodevelopmental disorders (NDDs), including global developmental delay (GDD), intellectual disability (ID), and autism spectrum disorder (ASD), represent a... 
Journal Article
Pediatric Neurology, ISSN 0887-8994, 10/2019, Volume 99, pp. 82 - 84
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The American Journal of Gastroenterology, ISSN 0002-9270, 05/2006, Volume 101, Issue 5, pp. 967 - 974
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Journal of Genetic Counseling, ISSN 1059-7700, 09/2019
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Pediatric neurology, 04/2019
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American Journal of Medical Genetics, Part A, ISSN 1552-4825, 05/2010, Volume 152, Issue 5, pp. 1136 - 1156
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PL o S Genetics (Online), ISSN 1553-7390, 03/2017, Volume 13, Issue 3, p. e1006683
textabstractSchinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and... 
ASXL1 | TRANSFORMATION | RECURRENT | ABNORMALITIES | DISTINCT | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | CANCER-RISK | CSF3R T618I | MYELODYSPLASTIC SYNDROME | CHRONIC MYELOID-LEUKEMIA | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Humans | Child, Preschool | Infant | Male | Gene Expression Profiling | Hematologic Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Intellectual Disability - metabolism | Cell Transformation, Neoplastic - genetics | HEK293 Cells | Hand Deformities, Congenital - metabolism | Germ-Line Mutation | Craniofacial Abnormalities - pathology | Female | Nuclear Proteins - genetics | Child | Craniofacial Abnormalities - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Hematologic Neoplasms - metabolism | Infant, Newborn | Cell Line | Cell Proliferation - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Nails, Malformed - metabolism | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Blotting, Western | Nails, Malformed - genetics | Carrier Proteins - genetics | Phenotype | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Hematologic Neoplasms - genetics | Mutation | Hand Deformities, Congenital - pathology | Cell proliferation | Genetic aspects | Research | Gene mutations | Schinzel-Giedion syndrome | Leukemia | Health sciences | Pediatrics | Neurosciences | Laboratories | Hot spots | Genomics | Genomes | Malignancy | Clustering | Patients | Incidence | Children & youth | Medicine | Pathology | Hospitals | Language | Genetics | Life sciences | In vitro methods and tests | Cancer
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2014, Volume 76, Issue 4, pp. 473 - 483
Journal Article
Journal Article
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
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Journal of Child Neurology, ISSN 0883-0738, 11/2018, Volume 33, Issue 13, pp. 825 - 831
GM3 synthase deficiency is due to biallelic pathogenic variants in ST3GAL5, which encodes a sialyltransferase that synthesizes ganglioside GM3. Key features of... 
cerebral palsy | gangliosides | ST3GAL5 | GM3 synthase | intellectual disability | MUTATION | PEDIATRICS | EPILEPSY | GM3 | CLINICAL NEUROLOGY
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Journal of Clinical Investigation, ISSN 0021-9738, 03/2019, Volume 129, Issue 3, pp. 1240 - 1256
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