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Revue Philosophique de Louvain, ISSN 0035-3841, 2012, Volume 110, Issue 1, pp. 193 - 194
Destrée Pierre. Greek and Roman Aesthetics. Translated and Edited by Oleg V. Bychkov, Anne Sheppard. In: Revue Philosophique de Louvain. Troisième série, tome... 
Journal Article
Revue Philosophique de Louvain, ISSN 0035-3841, 2009, Volume 107, Issue 1, pp. 191 - 191
Destrée Pierre. Plotin, Traité 1 (1, 6). Introduction, traduction, commentaires et notes par Anne-Lise Darras-Worms. In: Revue Philosophique de Louvain.... 
Journal Article
Revue Philosophique de Louvain, ISSN 0035-3841, 2011, Volume 109, Issue 1, pp. 233 - 233
Destrée Pierre. Mousikè et Aretè. La musique et l’éthique, de l’Antiquité à l’âge moderne. Actes du colloque international tenu en Sorbonne les 15-17 décembre... 
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 04/2013, Volume 8, Issue 1, pp. 63 - 63
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 11, pp. 1249 - 1254
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes... 
BLEPHAROPHIMOSIS | DE-NOVO MUTATIONS | MENTAL-RETARDATION | CAUSE GENITOPATELLAR SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | OHDO SYNDROME | HISTONE ACETYLTRANSFERASE KAT6B | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Index Medicus | Life Sciences | Human genetics
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2015, Volume 23, Issue 2, pp. 224 - 228
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2012, Volume 20, Issue 12, pp. 1216 - 1223
The Forkhead box G1 (FOXG1) gene has been implicated in severe Rett-like phenotypes. It encodes the Forkhead box protein G1, a winged-helix transcriptional... 
cis-acting regulatory element | CNV | 14q12 | FOXG1 | Rett syndrome | DUPLICATIONS | SEVERE MENTAL-RETARDATION | FOXG1 MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | QUESTIONABLE PATHOGENICITY | DELETION | GENETICS & HEREDITY | CONGENITAL VARIANT | PATIENT | EPILEPSY | Agenesis of Corpus Callosum - diagnosis | Protein Kinase C - genetics | Microcephaly - genetics | Humans | Child, Preschool | Male | DNA Copy Number Variations | Intellectual Disability - genetics | Forkhead Transcription Factors - metabolism | Agenesis of Corpus Callosum - genetics | Gene Deletion | Female | Transcription, Genetic | Child | Dyskinesias - genetics | Cell Line | Rett Syndrome - diagnosis | Physical Chromosome Mapping | Silencer Elements, Transcriptional - genetics | Microcephaly - diagnosis | Forkhead Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Syndrome | Nerve Tissue Proteins - metabolism | Point Mutation | Phenotype | Dyskinesias - diagnosis | Intellectual Disability - diagnosis | Rett Syndrome - genetics | Chromosomes, Human, Pair 14 - genetics | Phenotypes | Congenital diseases | Transcription | Intellectual disabilities | Genes | Forebrain | Regulatory sequences | Microcephaly | Neurodevelopmental disorders | Kinases | Corpus callosum | Proteins | Genotype & phenotype | Foxg1 protein | Microencephaly | Language | Genetics | Forkhead protein | Speech | Mutation | Gene mapping | Physical mapping | Dyskinesia | Index Medicus | Data processing | Gene deletion | Mental retardation | speech | DNA | Encephalopathy | Point mutation | Fibroblasts
Journal Article
PL o S Genetics (Online), ISSN 1553-7390, 03/2017, Volume 13, Issue 3, pp. e1006683 - 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 | Index Medicus
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article