X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (46) 46
index medicus (37) 37
male (34) 34
genetics & heredity (27) 27
female (24) 24
life sciences (21) 21
phenotype (20) 20
child (18) 18
genetics (17) 17
adult (15) 15
child, preschool (14) 14
mutation (13) 13
adolescent (11) 11
gene (11) 11
mutations (11) 11
fish (10) 10
chromosomes (9) 9
genetic aspects (9) 9
chromosome aberrations (8) 8
genes (8) 8
in situ hybridization, fluorescence (8) 8
obstetrics & gynecology (8) 8
[sdv.gen]life sciences [q-bio]/genetics (7) 7
abnormalities (7) 7
analysis (7) 7
deletion (7) 7
diagnosis (7) 7
duplication (7) 7
gene deletion (7) 7
genetic disorders (7) 7
research (7) 7
[ sdv.gen ] life sciences [q-bio]/genetics (6) 6
biochemistry & molecular biology (6) 6
chromosome deletion (6) 6
clinical neurology (6) 6
comparative genomic hybridization (6) 6
dna methylation (6) 6
human genetics (6) 6
human health and pathology (6) 6
infant (6) 6
intellectual disability (6) 6
karyotyping (6) 6
medicine (6) 6
methylation (6) 6
mosaicism (6) 6
pediatrics (6) 6
reproductive biology (6) 6
abridged index medicus (5) 5
aneuploidy (5) 5
article (5) 5
autism (5) 5
gene expression (5) 5
genomes (5) 5
in-situ hybridization (5) 5
infertility, male - genetics (5) 5
intellectual disability - genetics (5) 5
medical genetics (5) 5
polymorphism, single nucleotide (5) 5
spectrum (5) 5
spermatogenesis (5) 5
spermatozoa (5) 5
y chromosome (5) 5
young adult (5) 5
[ sdv ] life sciences [q-bio] (4) 4
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (4) 4
beckwith-wiedemann syndrome (4) 4
cancer (4) 4
children (4) 4
chromosome disorders - genetics (4) 4
clinical scoring system (4) 4
clonal deletion (4) 4
congenital, hereditary, and neonatal diseases and abnormalities (4) 4
disorders (4) 4
dna (4) 4
family (4) 4
gene mutations (4) 4
genetic counseling (4) 4
genetic research (4) 4
genomics (4) 4
genotype (4) 4
health aspects (4) 4
heterozygote (4) 4
male infertility (4) 4
medical and health sciences (4) 4
medical education (4) 4
medicin och hälsovetenskap (4) 4
mental disorders (4) 4
mental-retardation (4) 4
oligospermia - genetics (4) 4
pregnancy (4) 4
prognosis (4) 4
psychiatry (4) 4
recombination (4) 4
silver-russell-syndrome (4) 4
single-nucleotide polymorphism (4) 4
syndrome (4) 4
case-control studies (3) 3
chromosome 15 (3) 3
chromosomes, human, pair 17 - genetics (3) 3
chromosomes, human, x - genetics (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 71 - 78
Journal Article
Frontiers in Endocrinology, ISSN 1664-2392, 2019, Volume 10, p. 263
We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of... 
Beckwith-Wiedemann syndrome | 11p duplication | IGF1 receptor | Imprinting disease | Fetal growth restriction | IGF-II | SILVER-RUSSELL-SYNDROME | DOMAIN | imprinting disease | PHENOTYPE | CHILDREN | REGION | fetal growth restriction | GENE | ENDOCRINOLOGY & METABOLISM | MUTATIONS | BINDING
Journal Article
by Wolff, Markus and Johannesen, Katrine M and Hedrich, Ulrike B. S and Masnada, Silvia and Rubboli, Guido and Gardella, Elena and Lesca, Gaetan and Ville, Dorothée and Milh, Mathieu and Villard, Laurent and Afenjar, Alexandra and Chantot-Bastaraud, Sandra and Mignot, Cyril and Lardennois, Caroline and Nava, Caroline and Schwarz, Niklas and Gérard, Marion and Perrin, Laurence and Doummar, Diane and Auvin, Stéphane and Miranda, Maria J and Hempel, Maja and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and Van Kempen, Marjan and Braun, Kees P and Mancini, Grazia and Biskup, Saskia and Hörtnagel, Konstanze and Döcker, Miriam and Bast, Thomas and Loddenkemper, Tobias and Wong-Kisiel, Lily and Baumeister, Friedrich M and Fazeli, Walid and Striano, Pasquale and Dilena, Robertino and Fontana, Elena and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, Jess G and Arndt, Daniel H and Deconinck, Nicolas and Schmitt-Mechelke, Thomas and Maier, Oliver and Muhle, Hiltrud and Wical, Beverly and Finetti, Claudio and Brückner, Reinhard and Pietz, Joachim and Golla, Günther and Jillella, Dinesh and Linnet, Karen M and Charles, Perrine and Moog, Ute and Õiglane-Shlik, Eve and Mantovani, John F and Park, Kristen and Deprez, Marie and Lederer, Damien and Mary, Sandrine and Scalais, Emmanuel and Selim, Laila and Van Coster, Rudy and Lagae, Lieven and Nikanorova, Marina and Hjalgrim, Helle and Korenke, G. Christoph and Trivisano, Marina and Specchio, Nicola and Ceulemans, Berten and Dorn, Thomas and Helbig, Katherine L and Hardies, Katia and Stamberger, Hannah and De Jonghe, Peter and Weckhuysen, Sarah and Lemke, Johannes R and Krägeloh-Mann, Ingeborg and Helbig, Ingo and Kluger, Gerhard and Lerche, Holger and Møller, Rikke S
Brain, ISSN 0006-8950, 05/2017, Volume 140, Issue 5, pp. 1316 - 1336
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2017, Volume 185, pp. 160 - 166.e1
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2015, Volume 78, Issue 6, pp. 871 - 886
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2268 - 2274
Journal Article