X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (55) 55
index medicus (50) 50
female (39) 39
genetics & heredity (39) 39
male (39) 39
mutation (32) 32
adult (25) 25
child, preschool (25) 25
child (24) 24
phenotype (22) 22
adolescent (21) 21
genetics (17) 17
middle aged (17) 17
endocrinology & metabolism (14) 14
infant (13) 13
abnormalities, multiple - genetics (12) 12
intellectual disability - genetics (12) 12
syndrome (12) 12
children (11) 11
genetic aspects (11) 11
article (10) 10
growth disorders - genetics (10) 10
pedigree (10) 10
young adult (10) 10
abridged index medicus (9) 9
biochemistry & molecular biology (9) 9
facies (9) 9
gene (9) 9
genes (9) 9
research (9) 9
genetic disorders (8) 8
genotype & phenotype (8) 8
mutations (8) 8
pediatrics (8) 8
phenotypes (8) 8
diagnosis (7) 7
gene mutations (7) 7
genetic association studies (7) 7
animals (6) 6
exome (6) 6
gene expression (6) 6
genomes (6) 6
genotype (6) 6
genotype-phenotype correlation (6) 6
intellectual disability (6) 6
medicine (6) 6
patients (6) 6
polymorphism, single nucleotide (6) 6
abnormalities, multiple - diagnosis (5) 5
autism (5) 5
chromosome deletion (5) 5
comparative genomic hybridization (5) 5
dna mutational analysis (5) 5
dysplasia (5) 5
exons (5) 5
for-gestational-age (5) 5
gene deletion (5) 5
haploinsufficiency (5) 5
height (5) 5
infant, newborn (5) 5
intellectual disability - diagnosis (5) 5
mental retardation (5) 5
mice (5) 5
mouse (5) 5
patient (5) 5
protein (5) 5
short stature (5) 5
usage (5) 5
alleles (4) 4
analysis (4) 4
base sequence (4) 4
body height (4) 4
chromosome aberrations (4) 4
clonal deletion (4) 4
copy number (4) 4
craniofacial abnormalities - genetics (4) 4
deoxyribonucleic acid--dna (4) 4
dwarfism (4) 4
family (4) 4
growth (4) 4
hand deformities, congenital - genetics (4) 4
hearing impairment (4) 4
heterozygote (4) 4
human growth hormone - therapeutic use (4) 4
intellectual disabilities (4) 4
karyotyping (4) 4
medical research (4) 4
mental-retardation (4) 4
metabolism (4) 4
micrognathism - genetics (4) 4
molecular sequence data (4) 4
nuclear proteins - genetics (4) 4
point mutation (4) 4
pregnancy (4) 4
proteins (4) 4
radiography (4) 4
receptor, igf type 1 - genetics (4) 4
report (4) 4
abnormalities, multiple - pathology (3) 3
activation (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, 01/2015, Volume 23, Issue 9, pp. 1176 - 1185
textabstractLoss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental,... 
16Q24.3 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | COGNITIVE IMPAIRMENT | PATIENT | IDENTIFICATION | GENOME | DELETION | HAPLOINSUFFICIENCY | Abnormalities, Multiple - pathology | Tooth Abnormalities - diagnosis | Humans | Middle Aged | Autism Spectrum Disorder - complications | Child, Preschool | Intellectual Disability - complications | Male | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - pathology | Intellectual Disability - genetics | Exome | DNA Mutational Analysis | Tooth Abnormalities - complications | Gene Deletion | Facies | Adult | Female | Bone Diseases, Developmental - complications | Bone Diseases, Developmental - diagnosis | Child | Abnormalities, Multiple - genetics | Autism Spectrum Disorder - diagnosis | Autism Spectrum Disorder - genetics | Gene Expression | Tooth Abnormalities - genetics | Intellectual Disability - pathology | Repressor Proteins - genetics | Genotype | Autism Spectrum Disorder - pathology | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Chromosomes, Human, Pair 16 | Tooth Abnormalities - pathology | Phenotypes | Hyperactivity | Teeth | Genomes | Neurodevelopmental disorders | Patients | Hip | Hearing loss | Autism | Genotype & phenotype | Hearing | Nose | Phenotyping | Incisors | Genetics | Children | Mutation
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2016, Volume 24, Issue 5, pp. 652 - 659
Journal Article
Journal Article
JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY, ISSN 2168-6181, 05/2019, Volume 145, Issue 5, pp. 431 - 443
Key PointsQuestionWhat is the clinical benefit of diagnostic imaging (computed tomography [CT] or magnetic resonance imaging [MRI]) in children with isolated... 
GENOTYPE-PHENOTYPE CORRELATION | TEMPORAL BONE | DIAGNOSTIC PARADIGM | SURGERY | LEARNING-DISABILITIES | BONE COMPUTED-TOMOGRAPHY | EARLY EXPOSURE | BEHAVIORAL OUTCOMES | OTORHINOLARYNGOLOGY | ENLARGED VESTIBULAR AQUEDUCT | ARACHNOID CYSTS | COCHLEAR NERVE DEFICIENCY
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 12, pp. 1375 - 1381
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 04/2016, Volume 174, Issue 4, pp. R145 - R173
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2685 - 2690
Journal Article
by Santen, Gijs W. E and Aten, Emmelien and Vulto-van Silfhout, Anneke T and Pottinger, Caroline and van Bon, Bregje W. M and van Minderhout, Ivonne J. H. M and Snowdowne, Ronelle and van der Lans, Christian A. C and Boogaard, Merel and Linssen, Margot M. L and Vijfhuizen, Linda and van der Wielen, Michiel J. R and Vollebregt, M. J. Ellen and Breuning, Martijn H and Kriek, Marjolein and van Haeringen, Arie and den Dunnen, Johan T and Hoischen, Alexander and Clayton-Smith, Jill and de Vries, Bert B. A and Hennekam, Raoul C. M and van Belzen, Martine J and Almureikhi, Mariam and Baban, Anwar and Barbosa, Mafalda and Ben-Omran, Tawfeg and Berry, Katherine and Bigoni, Stefania and Boute, Odile and Brueton, Louise and van der Burgt, Ineke and Canham, Natalie and Chandler, Kate E and Chrzanowska, Krystyna and Collins, Amanda L and de Toni, Teresa and Dean, John and den Hollander, Nicolette S and Flore, Leigh Anne and Fryer, Alan and Gardham, Alice and Graham, John M and Harrison, Victoria and Horn, Denise and Jongmans, Marjolijn C and Josifova, gana and Kant, Sarina G and Kapoor, Seema and Kingston, Helen and Kini, Usha and Kleefstra, Tjitske and Krajewska-Walasek, Małgorzata and Kramer, Nancy and Maas, Saskia M and Maciel, Patricia and Mancini, Grazia M. S and Maystadt, Isabelle and McKee, Shane and Milunsky, Jeff M and Nampoothiri, Sheela and Newbury-Ecob, Ruth and Nikkel, Sarah M and Parker, Michael J and Pérez-Jurado, Luis A and Robertson, Stephen P and Rooryck, Caroline and Shears, Debbie and Silengo, Margherita and Singh, Ankur and Smigiel, Robert and Soares, Gabriela and Splitt, Miranda and Stewart, Helen and Sweeney, Elizabeth and Tassabehji, May and Tuysuz, Beyhan and van Eerde, Albertien M and Vincent-Delorme, Catherine and Wilson, Louise C and Yesil, Gozde and Coffin-Siris Consortium and Coffin-Siris consortium and the Coffin-Siris consortium
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1519 - 1528
Journal Article
Journal Article
Journal Article