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by Hu, H and Haas, S.A and Chelly, J and Esch, H. Van and Raynaud, M and Brouwer, A.P. de and Weinert, S and Froyen, G and Frints, S.G and Laumonnier, F and Zemojtel, T and Love, M.I and Richard, H and Emde, A.K and Bienek, M and Jensen, C and Hambrock, M and Fischer, U and Langnick, C and Feldkamp, M and Wissink-Lindhout, W and Lebrun, N and Castelnau, L and Rucci, J and Montjean, R and Dorseuil, O and Billuart, P and Stuhlmann, T and Shaw, M and Corbett, M.A and Gardner, A and Willis-Owen, S and Tan, C and Friend, K.L and Belet, S and Roozendaal, K.E. van and Jimenez-Pocquet, M and Moizard, M.P and Ronce, N and Sun, R and O'Keeffe, S and Chenna, R and Bommel, A. van and Goke, J and Hackett, A and Field, M and Christie, L and Boyle, J and Haan, E and Nelson, J and Turner, G and Baynam, G and Gillessen-Kaesbach, G and Muller, U and Steinberger, D and Budny, B and Badura-Stronka, M and Latos-Bielenska, A and Ousager, L.B and Wieacker, P and Roiguez Criado, G and Bondeson, M.L and Anneren, G and Dufke, A and Cohen, M and Maldergem, L. Van and Vincent-Delorme, C and Echenne, B and Simon-Bouy, B and Kleefstra, T and Willemsen, M.H and Fryns, J.P and Devriendt, K and Ullmann, R and Vingron, M and Wrogemann, K and Wienker, T.F and Tzschach, A and Bokhoven, H. van and Gecz, J and Jentsch, T.J and Chen, W and Ropers, H.H and Kalscheuer, V.M and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Medicinsk genetik och genomik
Molecular Psychiatry, ISSN 1359-4184, 2016, Volume 21, Issue 1, pp. 133 - 148
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID... 
LYSOSOMAL STORAGE DISEASE | HOMEODOMAIN TRANSCRIPTION FACTORS | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPINE MORPHOGENESIS | AUTISM SPECTRUM DISORDERS | RIBOSOME BIOGENESIS | NEUROSCIENCES | LINKED MENTAL-RETARDATION | DE-NOVO MUTATIONS | NEURITE OUTGROWTH | MARTIN-PROBST SYNDROME | CHLORIDE CHANNEL | Neurons - pathology | Humans | Histone Acetyltransferases - genetics | Male | Chloride Channels - genetics | RNA, Messenger - metabolism | Genetic Variation | Transcription Factor TFIID - genetics | Mental Retardation, X-Linked - genetics | Adult | Neurons - metabolism | Cyclin-Dependent Kinases - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Microfilament Proteins - genetics | Cells, Cultured | TATA-Binding Protein Associated Factors - genetics | Mice, Knockout | Chloride Channels - metabolism | Animals | Adaptor Proteins, Signal Transducing - genetics | Adolescent | High-Throughput Nucleotide Sequencing | Ubiquitin-Protein Ligases - genetics | Cohort Studies | Complications and side effects | Usage | Care and treatment | Genetic aspects | Nucleotide sequencing | Mental retardation | DNA sequencing | Index Medicus | Original | Basic Medicine | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk bioteknologi | Klinisk medicin | Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci) | Medical Biotechnology | Clinical Medicine | Medicinska och farmaceutiska grundvetenskaper | Psykiatri | Psychiatry | Neurovetenskaper
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Journal Article
Acta Paediatrica, ISSN 0803-5253, 04/2011, Volume 100, Issue 4, pp. 629 - 630
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2012, Volume 49, Issue 2, pp. 104 - 109
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, pp. e85313 - e85313
In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal malformations, C cardiac defects, T tracheoesofageal fistula, E... 
HETEROTAXY | ESOPHAGEAL ATRESIA | MULTIDISCIPLINARY SCIENCES | CHD7 GENE | DISORDERS | PATIENT | IDENTIFICATION | FANCONI-ANEMIA | Limb Deformities, Congenital - genetics | Translocation, Genetic | Genetic Testing | Oligonucleotide Array Sequence Analysis | Humans | Molecular Sequence Data | Male | Spine - abnormalities | Heart Defects, Congenital - genetics | Base Sequence | Female | Fetus | DNA Helicases - genetics | Trachea - abnormalities | Amino Acid Sequence | Gene Expression | Fanconi Anemia Complementation Group Proteins - genetics | Gene Dosage | DNA-Binding Proteins - genetics | Esophagus - abnormalities | Hemizygote | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Comparative Genomic Hybridization | Kidney - abnormalities | Heart Defects, Congenital - diagnosis | Cytogenetics | Genetic aspects | Comparative analysis | Health aspects | Genes | Pediatrics | Laboratories | Childrens health | Hybridization | Gene deletion | Defects | Genotype & phenotype | Ultrasonic imaging | Alterations | Clonal deletion | Etiology | Surgery | Deletion | Genetics | Heart diseases | Drug dosages | Deoxyribonucleic acid--DNA | Translocation | Vertebrae | Congenital diseases | Kidneys | Deformation mechanisms | Anemia | Fetuses | Fistulae | Anorectal | Gene expression | Medical screening | Patients | Esophagus | Children & youth | Medicine | Studies | Screening | Pathology | Hospitals | DNA microarrays | Genetic counseling | Mutation | Kidney transplantation | Index Medicus | Medical and Health Sciences | Medicin och hälsovetenskap | Deoxyribonucleic acid | DNA
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2008, Volume 45, Issue 8, pp. 500 - 506
Journal Article
Acta paediatrica (Oslo, Norway : 1992), ISSN 0803-5253, 05/2019
To analyse levels and profiles of autism symptoms in children with Down Syndrome (DS) with and without diagnosed autism spectrum disorder (ASD) and to... 
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2008, Volume 51, Issue 6, pp. 501 - 510
Abstract The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects.... 
Medical Education | Array-CGH | Children | MLPA | Mental retardation | Syndrome | 22q11.2 Duplication | TBX1 | MENTAL-RETARDATION | FEATURES | MICR