X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (12) 12
index medicus (12) 12
genetics & heredity (8) 8
genomics (7) 7
article (6) 6
chromosome aberrations (6) 6
female (6) 6
biochemistry & molecular biology (5) 5
developmental delay (5) 5
dna sequencing (5) 5
genomes (5) 5
mutation (5) 5
nucleotide sequencing (5) 5
autism (4) 4
autism spectrum disorders (4) 4
chromosome rearrangements (4) 4
chromosomes (4) 4
congenital diseases (4) 4
copy number variation (4) 4
genetic predisposition to disease (4) 4
genome, human (4) 4
male (4) 4
phenotype (4) 4
research (4) 4
adult (3) 3
child development disorders, pervasive - genetics (3) 3
congenital abnormalities - genetics (3) 3
diagnosis (3) 3
dna copy number variations (3) 3
gene rearrangement (3) 3
genetic aspects (3) 3
genetics (3) 3
genome-wide association study (3) 3
human genome (3) 3
prenatal care (3) 3
risk (3) 3
risk factors (3) 3
schizophrenia (3) 3
sequence analysis, dna (3) 3
structural variation (3) 3
translocation, genetic (3) 3
analysis (2) 2
animals (2) 2
articles (2) 2
bipolar-disorder (2) 2
breakpoints (2) 2
causes of (2) 2
cell biology (2) 2
child (2) 2
chromosomal microarray (2) 2
chromosome breakpoints (2) 2
chromosome deletion (2) 2
chromosomes, human - genetics (2) 2
cohort studies (2) 2
comparative genomic hybridization (2) 2
copy number variations (2) 2
copy-number variation (2) 2
cytogenetics (2) 2
de-novo (2) 2
de-novo mutations (2) 2
deoxyribonucleic acid--dna (2) 2
developmental disabilities - genetics (2) 2
dna copy number variations - genetics (2) 2
dna-binding proteins - genetics (2) 2
exons (2) 2
gene expression (2) 2
genes (2) 2
genetic counseling (2) 2
genetic markers - genetics (2) 2
genome-wide association (2) 2
genomic instability (2) 2
health aspects (2) 2
identification (2) 2
infant (2) 2
infant, newborn (2) 2
intellectual disability (2) 2
medical screening (2) 2
mental disorders (2) 2
mental disorders - genetics (2) 2
mental illness (2) 2
mental-retardation (2) 2
methods (2) 2
microdeletion syndrome (2) 2
nerve tissue proteins - genetics (2) 2
neurodevelopmental disorders (2) 2
pregnancy (2) 2
prenatal diagnosis - methods (2) 2
psychiatry (2) 2
rearrangements (2) 2
report (2) 2
sequence deletion (2) 2
syndrome (2) 2
transcription factors - genetics (2) 2
2q23.1 microdeletion (1) 1
2q23.1 microdeletion syndrome (1) 1
abnormalities (1) 1
abridged index medicus (1) 1
adolescent (1) 1
age (1) 1
age of onset (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


The New England Journal of Medicine, ISSN 0028-4793, 12/2012, Volume 367, Issue 23, pp. 2226 - 2232
Journal Article
Journal Article
Cell, ISSN 0092-8674, 04/2012, Volume 149, Issue 3, pp. 525 - 537
Journal Article
Journal Article
Journal Article
Journal Article
Journal Article
by Lionel, Anath C and Tammimies, Kristiina and Vaags, Andrea K and Rosenfeld, Jill A and Ahn, Joo Wook and Merico, Daniele and Noor, Abdul and Runke, Cassandra K and Pillalamarri, Vamsee K and Carter, Melissa T and Gazzellone, Matthew J and Thiruvahindrapuram, Bhooma and Fagerberg, Christina and Laulund, Lone W and Pellecchia, Giovanna and Lamoureux, Sylvia and Deshpande, Charu and Clayton-Smith, Jill and White, Ann C and Leather, Susan and Trounce, John and Melanie Bedford, H and Hatchwell, Eli and Eis, Peggy S and Yuen, Ryan K.C and Walker, Susan and Uddin, Mohammed and Geraghty, Michael T and Nikkel, Sarah M and Tomiak, Eva M and Fernandez, Bridget A and Soreni, Noam and Crosbie, Jennifer and Arnold, Paul D and Schachar, Russell J and Roberts, Wendy and Paterson, Andrew D and So, Joyce and Szatmari, Peter and Chrysler, Christina and Woodbury-Smith, Marc and Brian Lowry, R and Zwaigenbaum, Lonnie and Mandyam, Divya and Wei, John and MacDonald, Jeffrey R and Howe, Jennifer L and Nalpathamkalam, Thomas and Wang, Zhuozhi and Tolson, Daniel and Cobb, David S and Wilks, Timothy M and Sorensen, Mark J and Bader, Patricia I and An, Yu and Wu, Bai-Lin and Musumeci, Sebastiano Antonino and Romano, Corrado and Postorivo, Diana and Nardone, Anna M and Monica, Matteo Della and Scarano, Gioacchino and Zoccante, Leonardo and Novara, Francesca and Zuffardi, Orsetta and Ciccone, Roberto and Antona, Vincenzo and Carella, Massimo and Zelante, Leopoldo and Cavalli, Pietro and Poggiani, Carlo and Cavallari, Ugo and Argiropoulos, Bob and Chernos, Judy and Brasch-Andersen, Charlotte and Speevak, Marsha and Fichera, Marco and Ogilvie, Caroline Mackie and Shen, Yiping and Hodge, Jennelle C and Talkowski, Michael E and Stavropoulos, Dimitri J and Marshall, Christian R and Scherer, Stephen W
Human Molecular Genetics, ISSN 0964-6906, 5/2014, Volume 23, Issue 10, pp. 2752 - 2768
Journal Article