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Nederlands tijdschrift voor geneeskunde, ISSN 0028-2162, 03/2019, Volume 163
16p11.2 deletion syndrome is one of the most prevalent microdeletion syndromes in the world. Nevertheless, many doctors are not (yet) familiar with this... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2456 - 2459
Journal Article
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 2017, Volume 161, Issue 19
Journal Article
Journal Article
by Jacquemont, S and Reymond, A and Zufferey, F and Harewood, L and Walters, R.G and Kutalik, Z and Martinet, D and Shen, Y and Valsesia, A and Beckmann, N.D and Thorleifsson, G and Belfiore, M and Bouquillon, S and Campion, D and Leeuw, N. de and Vries, L.B.A. de and Esko, T and Fernandez, B.A and Fernandez-Aranda, F and Fernandez-Real, J.M and Gratacos, M and Guilmatre, A and Hoyer, J and Jarvelin, M.R and Kooy, R.F and Kurg, A and Caignec, C. Le and Mannik, K and Platt, O.S and Sanlaville, D and Haelst, M.M. van and Villatoro Gomez, S and Walha, F and Wu, B.L and Yu, Y and Aboura, A and Addor, M.C and Alembik, Y and Antonarakis, S.E and Arveiler, B and Barth, M and Bednarek, N and Bena, F and Bergmann, S and Beri, M and Bernardini, L and Blaumeiser, B and Bonneau, D and Bottani, A and Boute, O and Brunner, H.G and Cailley, D and Callier, P and Chiesa, J and Chrast, J and Coin, L and Coutton, C and Cuisset, J.M and Cuvellier, J.C and David, A and Freminville, B. de and Delobel, B and Delrue, M.A and Demeer, B and Descamps, D and Didelot, G and Dieterich, K and Disciglio, V and Doco-Fenzy, M and nat, S and Duban-Bedu, B and Dubourg, C and El-Sayed Moustafa, J.S and Elliott, P and Faas, B.H.W and Faivre, L and Faudet, A and Fellmann, F and Ferrarini, A and Fisher, R and Flori, E and Forer, L and Gaillard, D and Gerard, M and Gieger, C and Gimelli, S and Gimelli, G and Grabe, H.J and Guichet, A and Guillin, O and Hartikainen, A.L and Heron, D and Hippolyte, L and Holder, M and Homuth, G and Isidor, B and Jaillard, S and Jaros, Z and Jimenez-Murcia, S and Helas, G.J and ...
Nature, ISSN 0028-0836, 2011, Volume 478, Issue 7367, pp. 97 - 102
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) DEPENDENT PROBE AMPLIFICATION | FAILURE-TO-THRIVE | METABOLIC SYNDROME | RELATIVE QUANTIFICATION | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | BODY-MASS INDEX | TIME QUANTITATIVE PCR | COPY NUMBER VARIATION | CIRCULAR BINARY SEGMENTATION | Humans | Middle Aged | Child, Preschool | RNA, Messenger - analysis | Head - anatomy & histology | Infant | Male | Developmental Disabilities - genetics | Gene Expression Profiling | North America | Obesity - genetics | Case-Control Studies | Young Adult | Mental Disorders - genetics | Aging | Gene Duplication - genetics | Adult | Female | Transcription, Genetic | Energy Metabolism - genetics | Child | Infant, Newborn | Chromosomes, Human, Pair 16 - genetics | Body Mass Index | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Europe | RNA, Messenger - genetics | Mutation - genetics | Body Height - genetics | Thinness - genetics | Phenotype | Comparative Genomic Hybridization | Adolescent | Heterozygote | Aged | Cohort Studies | Sequence Deletion - genetics | Obesity | Chromosome mapping | Usage | Genetic variation | Genetic aspects | Cognition disorders | Research | Risk factors | Schizophrenia | Gender | Behavior | Gene expression | Bias | Life Sciences | Human health and pathology | Genetics | Endocrinology and metabolism | Gene Duplication | Developmental Disabilities | Sequence Deletion | Thinness | genetics | Genetic Predisposition to Disease | Head | Gene Dosage | analysis | Energy Metabolism | Mental Disorders | Chromosomes, Human, Pair 16 | Body Height | Mutation | anatomy & histology | RNA, Messenger
Journal Article
by Platzer, Konrad and Yuan, Hongjie and Schütz, Hannah and Winschel, Alexander and Chen, Wenjuan and Hu, Chun and Kusumoto, Hirofumi and Heyne, Henrike O and Helbig, Katherine L and Tang, Sha and Willing, Marcia C and Tinkle, Brad T and Adams, Darius J and Depienne, Christel and Keren, Boris and Mignot, Cyril and Frengen, Eirik and Strømme, Petter and Biskup, Saskia and Döcker, Dennis and Strom, Tim M and Mefford, Heather C and Myers, Candace T and Muir, Alison M and LaCroix, Amy and Sadleir, Lynette and Scheffer, Ingrid E and Brilstra, Eva and van Haelst, Mieke M and van der Smagt, Jasper J and Bok, Levinus A and Møller, Rikke S and Jensen, Uffe B and Millichap, John J and Berg, Anne T and Goldberg, Ethan M and De Bie, Isabelle and Fox, Stephanie and Major, Philippe and Jones, Julie R and Zackai, Elaine H and Abou Jamra, Rami and Rolfs, Arndt and Leventer, Richard J and Lawson, John A and Roscioli, Tony and Jansen, Floor E and Ranza, Emmanuelle and Korff, Christian M and Lehesjoki, Anna-Elina and Courage, Carolina and Linnankivi, Tarja and Smith, Douglas R and Stanley, Christine and Mintz, Mark and McKnight, Dianalee and Decker, Amy and Tan, Wen-Hann and Tarnopolsky, Mark A and Brady, Lauren I and Wolff, Markus and Dondit, Lutz and Pedro, Helio F and Parisotto, Sarah E and Jones, Kelly L and Patel, Anup D and Franz, David N and Vanzo, Rena and Marco, Elysa and Ranells, Judith D and Di Donato, Nataliya and Dobyns, William B and Laube, Bodo and Traynelis, Stephen F and Lemke, Johannes R
Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 460 - 470
Journal Article
Case reports in genetics, ISSN 2090-6544, 2016, Volume 2016, p. 2861653
Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and... 
Congenital heart disease | Genetic disorders | Diagnosis | Heart diseases | Case Report
Journal Article
Journal of clinical investigation, ISSN 0021-9738, 2017, Volume 127, Issue 3, pp. 1005 - 1018
Journal Article
Metabolism, ISSN 0026-0495, 03/2019, Volume 92, pp. 26 - 36
Body fat mass increases when energy intake exceeds energy expenditure. In the long term, a positive energy balance will result in obesity. The worldwide... 
Energy expenditure | Obesity | Monogenetic obesity | Reward deficiency | Food intake | Metabolic efficiency | Leptin | Body weight | Surgery | Medical genetics | Physiological aspects | ACTH | Neuropeptides | Diabetes | Muscle proteins | Health aspects | Adenosine triphosphate
Journal Article