X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (55) 55
female (40) 40
genetics & heredity (38) 38
male (32) 32
index medicus (26) 26
mutation (21) 21
child (19) 19
phenotype (18) 18
adult (17) 17
pedigree (17) 17
child, preschool (16) 16
genetics (15) 15
syndrome (15) 15
dna mutational analysis (14) 14
infant (14) 14
article (12) 12
mutations (12) 12
abnormalities, multiple - genetics (11) 11
adolescent (11) 11
biochemistry & molecular biology (10) 10
genetic aspects (10) 10
infant, newborn (10) 10
pregnancy (10) 10
research (10) 10
intellectual disability - genetics (9) 9
chromosome deletion (8) 8
genes (8) 8
genotype (8) 8
clinical neurology (7) 7
diagnosis (7) 7
gene (7) 7
molecular sequence data (7) 7
proteins (7) 7
anomalies (6) 6
base sequence (6) 6
face - abnormalities (6) 6
gene deletion (6) 6
gene mutations (6) 6
mutation - genetics (6) 6
transcription factors - genetics (6) 6
abnormalities, multiple - pathology (5) 5
chromosome mapping (5) 5
chromosomes, human, pair 7 (5) 5
craniosynostoses - genetics (5) 5
craniosynostosis (5) 5
disease (5) 5
epilepsy (5) 5
gene expression (5) 5
medical research (5) 5
spectrum (5) 5
animals (4) 4
autism (4) 4
children (4) 4
chromosomes (4) 4
deletions (4) 4
dna-binding proteins - genetics (4) 4
exons (4) 4
expression (4) 4
family health (4) 4
genetic association studies (4) 4
genotype & phenotype (4) 4
interstitial deletion (4) 4
neurosciences (4) 4
pediatrics (4) 4
young adult (4) 4
abnormalities, multiple - diagnosis (3) 3
abridged index medicus (3) 3
alleles (3) 3
amino acid sequence (3) 3
arthrogryposis (3) 3
brain (3) 3
chromosome banding (3) 3
cleidocranial dysplasia (3) 3
complex (3) 3
congenital diseases (3) 3
corrigendum (3) 3
defects (3) 3
domain (3) 3
duplication (3) 3
epilepsy - genetics (3) 3
family (3) 3
fingers - abnormalities (3) 3
genetic variation (3) 3
genomics (3) 3
hand deformities, congenital - genetics (3) 3
haploinsufficiency (3) 3
intellectual disabilities (3) 3
karyotyping (3) 3
limbs (3) 3
locus (3) 3
lod score (3) 3
malformations (3) 3
mental retardation (3) 3
mice (3) 3
microdeletion (3) 3
middle aged (3) 3
missense mutation (3) 3
neurology (3) 3
phenotypes (3) 3
prenatal-diagnosis (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1243 - 1248
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2009, Volume 41, Issue 7, pp. 829 - U89
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 67 - 81
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 89, Issue 4, pp. 551 - 563
Journal Article
by Rice, Gillian and Patrick, Teresa and Parmar, Rekha and Taylor, Claire F and Aeby, Alec and Aicardi, Jean and Artuch, Rafael and Montalto, Simon Attard and Bacino, Carlos A and Barroso, Bruno and Baxter, Peter and Benko, Willam S and Bergmann, Carsten and Bertini, Enrico and Biancheri, Roberta and Blair, Edward M and Blau, Nenad and Bonthron, David T and Briggs, Tracy and Brueton, Louise A and Brunner, Han G and Burke, Christopher J and Carr, Ian M and Carvalho, Daniel R and Chandler, Kate E and Christen, Hans-Jürgen and Corry, Peter C and Cowan, Frances M and Cox, Helen and D’Arrigo, Stefano and Dean, John and De Laet, Corinne and De Praeter, Claudine and Déry, Catherine and Ferrie, Colin D and Flintoff, Kim and Frints, Suzanna G.M and Garcia-Cazorla, Angels and Gener, Blanca and Goizet, Cyril and Goutières, Françoise and Green, Andrew J and Guët, Agnès and Hamel, Ben C.J and Hayward, Bruce E and Heiberg, Arvid and Hennekam, Raoul C and Husson, Marie and Jackson, Andrew P and Jayatunga, Rasieka and Jiang, Yong-Hui and Kant, Sarina G and Kao, Amy and King, Mary D and Kingston, Helen M and Klepper, Joerg and van der Knaap, Marjo S and Kornberg, Andrew J and Kotzot, Dieter and Kratzer, Wilfried and Lacombe, Didier and Lagae, Lieven and Landrieu, Pierre Georges and Lanzi, Giovanni and Leitch, Andrea and Lim, Ming J and Livingston, John H and Lourenco, Charles M and Lyall, E. G. Hermione and Lynch, Sally A and Lyons, Michael J and Marom, Daphna and McClure, John P and McWilliam, Robert and Melancon, Serge B and Mewasingh, Leena D and Moutard, Marie-Laure and Nischal, Ken K and Østergaard, John R and Prendiville, Julie and Rasmussen, Magnhild and Rogers, R. Curtis and Roland, Dominique and Rosser, Elisabeth M and Rostasy, Kevin and Roubertie, Agathe and Sanchis, Amparo and Schiffmann, Raphael and Scholl-Bürgi, Sabine and Seal, Sunita and Shalev, Stavit A and Corcoles, C. Sierra and Sinha, Gyan P and Soler, Doriette and Spiegel, Ronen and Stephenson, John B.P and Tacke, Uta and Tan, Tiong Yang and Till, Marianne and Tolmie, John L and ...
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 81, Issue 4, pp. 713 - 725
Journal Article
Archives of Disease in Childhood, ISSN 0022-2593, 01/2012, Volume 49, Issue 1, p. 21
Abdominal imaging after intravenous injection of 99mTc pertechnetate is a simple, safe, and noninvasive diagnostic procedure to show ectopic gastric mucosa,... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2000, Volume 67, Issue 1, pp. 197 - 202
Journal Article
Journal Article