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1. Progressieve ataxie en cognitieve achteruitgang door een premutatie in het fragiele-X-mentale-retardatiegen
by Roks, G and Sistermans, E.A and De Vries, L.B.A and Nijssen, P.C.G
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 10/2005, Volume 149, Issue 43, pp. 2418 - 2422
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2. Full Text A de novo paradigm for mental retardation
by Vissers, L.E.L.M and Ligt, J. de and Gilissen, C.F.H.A and Janssen, I.M and Steehouwer, M and Vries, P.F. de and Lier, B. van and Arts, P.J.W and Wieskamp, N.A.W and Rosario, M. del and Bon, B.W.M. van and Hoischen, A and Vries, L.B.A. de and Brunner, H.G and Veltman, J.A
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 12, pp. 1109 - 1112
The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common... 
MICE | MUTATIONS | GENE | DYNEIN | GENETICS & HEREDITY | Base Sequence | Humans | Exons - genetics | Female | Male | Mutation - genetics | Sequence Analysis, DNA | Intellectual Disability - genetics | Genetic aspects | Research | Gene mutations | Health aspects | Mental retardation | Risk factors | Studies | Candidates | Disease | Genetics | Mutation | Experiments | Chromosomes
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3. Full Text Neuropsychological phenotyping of genetic syndromes
by Egger, J.I.M and Koolen, D.A and Wingbermühle, P.A.M and Verhoeven, W.M.A and Kleefstra, T and Vries, L.B.A. de
European Psychiatry, ISSN 0924-9338, 2012, Volume 27
Introduction Over the past years several novel microdeletion syndromes have been reported that may be associated with a specific pattern of psychological... 
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4. Full Text De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
by Hoischen, A and Bon, B.W.M. van and Gilissen, C.F.H.A and Arts, P.J.W and Lier, B. van and Steehouwer, M and Vries, P.F. de and Reuver, R. de and Wieskamp, N.A.W and Mortier, G and Devriendt, K and Amorim, M.Z and Revencu, N and Kidd, A and Barbosa, M and Turner, A and Smith, J and Oley, C and Henderson, A and Hayes, I.M and Thompson, E.M and Brunner, H.G and Vries, L.B.A. de and Veltman, J.A
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 6, pp. 483 - 485
Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected... 
DELINEATION | PROTEIN | FUSION | LEUKEMIA | GENE | GENETICS & HEREDITY | Carrier Proteins - genetics | Base Sequence | Face - abnormalities | Humans | Molecular Sequence Data | Mutation | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Syndrome | Intellectual Disability - genetics | Genetic disorders | Gene mutations | Diagnosis | Research | Single nucleotide polymorphisms | Health aspects | Risk factors | Medical research | Genes | Genetics | Amino acids | Chromosomes | Mental retardation | Methods
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5. Full Text Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
by Mefford, Heather C and Sharp, Andrew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M.H.F and de Leeuw, Nicole and Reardon, William and Gimelli, Giorgio and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Giudice, Mariangela Lo and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Räber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and De Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Björn and Gribble, Susan and Schwartz, Charles E and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J.L and Sebat, Jonathan and Romano, Corrado and Veltman, Joris A and de Vries, Bert B.A and Vermeesch, Joris R and Barber, John C.K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
The New England Journal of Medicine, ISSN 0028-4793, 10/2008, Volume 359, Issue 16, pp. 1685 - 1699
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a... 
Genotype & phenotype | Pediatrics | Pathology | Molecular biology | Chromosomes
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6. Full Text Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
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
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7. Full Text Diagnostic Genome Profiling in Mental Retardation
by de Vries, Bert B.A and Pfundt, Rolph and Leisink, Martijn and Koolen, David A and Vissers, Lisenka E.L.M and Janssen, Irene M and Reijmersdal, Simon van and Nillesen, Willy M and Huys, Erik H.L.P.G and Leeuw, Nicole de and Smeets, Dominique and Sistermans, Erik A and Feuth, Ton and van Ravenswaaij-Arts, Conny M.A and van Kessel, Ad Geurts and Schoenmakers, Eric F.P.M and Brunner, Han G and Veltman, Joris A
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 77, Issue 4, pp. 606 - 616
Mental retardation (MR) occurs in 2%–3% of the general population. Conventional karyotyping has a resolution of 5–10 million bases and detects chromosomal... 
SUBTELOMERIC REARRANGEMENTS | DEPENDENT PROBE AMPLIFICATION | MICROARRAY | SEQUENCES | TUTORIAL | DNA | GENETICS & HEREDITY | HYBRIDIZATION | COPY NUMBER VARIATION | ABERRATIONS | CHROMOSOMAL REARRANGEMENTS | Nucleic Acid Hybridization | Humans | Karyotyping | Adolescent | Adult | Female | Male | Gene Expression Profiling | Genome, Human | Child | Intellectual Disability - genetics | Mental retardation | Genetic aspects | Research
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8. Full Text TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function
by Gomez-Herreros, F and Schuurs-Hoeijmakers, J.H.M and McCormack, M and Greally, M.T and Rulten, S and Romero-Granados, R and Counihan, T.J and Chaila, E and Conroy, J and Ennis, S and Delanty, N and Cortes-Ledesma, F and Brouwer, A.P.M. de and Cavalleri, G.L and El-Khamisy, S.F and Vries, L.B.A. de and Caldecott, K.W
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 516 - 521
Topoisomerase II (TOP2) removes torsional stress from DNA and facilitates gene transcription by introducing transient DNA double-strand breaks (DSBs). Such... 
RECEPTOR-ASSOCIATED FACTORS | CELLS | REPAIR | SPINOCEREBELLAR ATAXIA | TTRAP | GENES | GENETICS & HEREDITY | AXONAL NEUROPATHY | MEDIATED DNA-DAMAGE | PHOSPHODIESTERASE | II-BETA | Seizures - genetics | Humans | Molecular Sequence Data | DNA Breaks, Double-Stranded | Intellectual Disability - genetics | Brain - metabolism | DNA-Binding Proteins - metabolism | Poly-ADP-Ribose Binding Proteins | Chromatin Immunoprecipitation | Microarray Analysis | Base Sequence | Neurons - physiology | Antigens, Neoplasm - metabolism | Ataxia - genetics | Nuclear Proteins - genetics | Real-Time Polymerase Chain Reaction | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | DNA Topoisomerases, Type II - metabolism | Nuclear Proteins - metabolism | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Transcription Factors - metabolism | Homozygote | Exome - genetics | Animals | Fluorescent Antibody Technique | DNA Topoisomerases, Type II - genetics | Mice | Transcription, Genetic - genetics | Genetic aspects | Topoisomerases | Neural circuitry | Genetic transcription | Health aspects | Medical research | Enzymes | Genomes | DNA repair | Experiments | Proteins | Studies | Acquired immune deficiency syndrome--AIDS | Ataxia | Mutation | Age | Deoxyribonucleic acid--DNA | Cancer
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9. Full Text Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
by Vissers, L.E.L.M and Ravenswaaij-Arts, C.M.A. van and Admiraal, R.J.C and Hurst, J.A and Vries, L.B.A. de and Janssen, I.M and Vliet, W.A. van der and Huys, E and Jong, P.J. de and Hamel, B.C.J and Schoenmakers, E.F.P.M and Brunner, H.G and Veltman, J.A and Geurts van Kessel, A.H.M
Nature Genetics, ISSN 1061-4036, 2004, Volume 36, Issue 9, pp. 955 - 957
CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping... 
EXCLUSION | COMPARATIVE GENOMIC HYBRIDIZATION | PROTEINS | ASSOCIATION | GENETICS & HEREDITY | Heart Defects, Congenital - genetics | Deafness - genetics | Choanal Atresia - genetics | Gene Deletion | Humans | Coloboma - genetics | Mutation | DNA-Binding Proteins - genetics | DNA Helicases - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - genetics | Syndrome | Polymerase chain reaction | Usage | Genetic disorders | Gene mutations | Research | Identification and classification | Health aspects | Risk factors
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10. Full Text A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
by Koolen, D.A and Vissers, L.E.L.M and Pfundt, R and Leeuw, N. de and Knight, S.J and Regan, R and Kooy, R.F and Reyniers, E and Romano, C and Fichera, M and Schinzel, A and Baumer, A and Anderlid, B.M and Schoumans, J and Knoers, N.V.A.M and Geurts van Kessel, A.H.M and Sistermans, E.A and Veltman, J.A and Brunner, H.G and Vries, L.B.A. de
Nature Genetics, ISSN 1061-4036, 2006, Volume 38, Issue 9, pp. 999 - 1001
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three... 
RETARDATION | FRONTOTEMPORAL DEMENTIA | GENETICS & HEREDITY | TAU | MICE | MAPT | COMPARATIVE GENOMIC HYBRIDIZATION | FEATURES | Haplotypes | Brain - diagnostic imaging | Prevalence | Humans | Child, Preschool | Receptors, Corticotropin-Releasing Hormone - genetics | Male | Brain - abnormalities | Chromosome Inversion | Intellectual Disability - genetics | tau Proteins - genetics | Adult | Female | Intellectual Disability - epidemiology | Chromosome Deletion | Muscle Hypotonia - genetics | Physical Chromosome Mapping | Face - pathology | Gene Frequency | Intellectual Disability - pathology | Gene Dosage | Syndrome | Polymorphism, Genetic | Radiography | Magnetic Resonance Imaging | Muscle Hypotonia - physiopathology | Chromosomes, Human, Pair 17 | Adolescent | Cohort Studies | Complications and side effects | Gene mutations | Research | Diagnosis | Mental retardation | Health aspects | Risk factors | Genetic polymorphisms | Genetic disorders | Intellectual disabilities | Genomics | Polymorphism
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11. Van gen naar ziekte; het fragiele-X-syndroom: Erfelijke mentale retardatie door een groeiend gen
by De Vries, L.B.A and Oostra, B.A
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 03/2001, Volume 145, Issue 10, pp. 474 - 476
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12. Full Text Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
by Kleefstra, Tjitske and Brunner, Han G and Amiel, Jeanne and Oudakker, Astrid R and Nillesen, Willy M and Magee, Alex and Geneviève, David and Cormier-Daire, Valérie and van Esch, Hilde and Fryns, Jean-Pierre and Hamel, Ben C.J and Sistermans, Erik A and de Vries, Bert B.A and van Bokhoven, Hans
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 79, Issue 2, pp. 370 - 377
A clinically recognizable 9q subtelomeric deletion syndrome has recently been established. Common features seen in these patients are severe mental... 
DEPENDENT PROBE AMPLIFICATION | HISTONE LYSINE METHYLATION | METHYLTRANSFERASE | LINKED MENTAL-RETARDATION | GENE | GENETICS & HEREDITY | PATIENT | REARRANGEMENTS | G9A | CHROMOSOME 9Q | FEATURES | Chromosome Deletion | Histone-Lysine N-Methyltransferase | Humans | Methyltransferases - genetics | Child, Preschool | Molecular Sequence Data | Infant | Male | Chromosomes, Human, Pair 9 | Syndrome | Pedigree | Adolescent | Adult | Female | Mutation | Child | Abnormalities, Multiple - genetics | Infant, Newborn | Genetic research | Chromatin | Research | Gene mutations | Report
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13. Full Text Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
by van Bon, B W M and Mefford, H C and Menten, B and Koolen, D A and Sharp, A J and Nillesen, W M and Innis, J W and de Ravel, T J L and Mercer, C L and Fichera, M and Stewart, H and Connell, L E and Õunap, K and Lachlan, K and Castle, B and Van der Aa, N and van Ravenswaaij, C and Nobrega, M A and Serra-Juhé, C and Simonic, I and de Leeuw, N and Pfundt, R and Bongers, E M and Baker, C and Finnemore, P and Huang, S and Maloney, V K and Crolla, J A and van Kalmthout, M and Elia, M and Vandeweyer, G and Fryns, J P and Janssens, S and Foulds, N and Reitano, S and Smith, K and Parkel, S and Loeys, B and Woods, C G and Oostra, A and Speleman, F and Pereira, A C and Kurg, A and Willatt, L and Knight, S J L and Vermeesch, J R and Romano, C and Barber, J C and Mortier, G and Pérez-Jurado, L A and Kooy, F and Brunner, H G and Eichler, E E and Kleefstra, T and de Vries, B B A
Journal of Medical Genetics, ISSN 0022-2593, 08/2009, Volume 46, Issue 8, pp. 511 - 523
Background:Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to... 
MOLECULAR CHARACTERIZATION | CHROMOSOME 22Q11 | PRADER-WILLI | HUMAN GENOME | LINKAGE DISEQUILIBRIUM | MENTAL-RETARDATION | ARRAY-CGH | GENETICS & HEREDITY | ABSENT-RADIUS SYNDROME | SEGMENTAL DUPLICATIONS | COPY-NUMBER VARIATION | Chromosome Deletion | Gene Duplication | Chromosome Disorders - pathology | Oligonucleotide Array Sequence Analysis | Humans | Intellectual Disability - pathology | Child, Preschool | Infant | Male | Chromosomes, Human, Pair 15 - genetics | Syndrome | Intellectual Disability - genetics | Pregnancy | Pedigree | Adolescent | Chromosome Aberrations | Adult | Female | Child | Chromosome Disorders - genetics | Infant, Newborn | Patient outcomes | Epilepsy | Development and progression | Chromosome deletion | Genetic aspects | Research | Mental retardation | epilepsy | KLF13 | 15q13.3 | CHRNA7 | cardiac
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