X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (172) 172
humans (161) 161
genetics & heredity (142) 142
female (124) 124
male (124) 124
mutation (90) 90
phenotype (83) 83
child, preschool (71) 71
child (68) 68
genetic aspects (57) 57
genetics (56) 56
adult (48) 48
infant (48) 48
intellectual disability - genetics (48) 48
adolescent (46) 46
abnormalities, multiple - genetics (40) 40
genes (39) 39
syndrome (39) 39
mutations (37) 37
research (36) 36
pedigree (35) 35
biochemistry & molecular biology (34) 34
article (31) 31
intellectual disability (29) 29
proteins (28) 28
gene mutations (27) 27
dna mutational analysis (25) 25
young adult (25) 25
mental-retardation (24) 24
animals (22) 22
genotype (22) 22
genotype & phenotype (22) 22
face - abnormalities (21) 21
facies (21) 21
analysis (20) 20
chromosome deletion (20) 20
gene (20) 20
intellectual disabilities (20) 20
mutation - genetics (20) 20
family (19) 19
genetic association studies (19) 19
human genetics (19) 19
microcephaly - genetics (19) 19
mental retardation (18) 18
phenotypes (18) 18
molecular sequence data (17) 17
transcription factors - genetics (17) 17
patients (16) 16
seizures (16) 16
gene expression (15) 15
genetic disorders (15) 15
genomes (15) 15
amino acid sequence (14) 14
children (14) 14
exome (14) 14
genetic research (14) 14
haploinsufficiency (14) 14
heterozygote (14) 14
identification (14) 14
infant, newborn (14) 14
intellectual disability - diagnosis (14) 14
mice (14) 14
pediatrics (14) 14
physiological aspects (14) 14
sequence analysis, dna (14) 14
dna-binding proteins - genetics (13) 13
microcephaly (13) 13
middle aged (13) 13
report (13) 13
variants (13) 13
diagnosis (12) 12
disease (12) 12
karyotyping (12) 12
life sciences (12) 12
medicine (12) 12
polymorphism, single nucleotide (12) 12
protein (12) 12
cancer (11) 11
chromosomes (11) 11
disorders (11) 11
expression (11) 11
genomics (11) 11
health aspects (11) 11
homozygote (11) 11
intellectual disability - pathology (11) 11
abnormalities, multiple - diagnosis (10) 10
abnormalities, multiple - pathology (10) 10
base sequence (10) 10
deletion (10) 10
gene deletion (10) 10
hand deformities, congenital - genetics (10) 10
nuclear proteins - genetics (10) 10
pregnancy (10) 10
risk factors (10) 10
abridged index medicus (9) 9
autism (9) 9
biomedicine (9) 9
brain (9) 9
clinical neurology (9) 9
defects (9) 9
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


medizinische genetik, ISSN 0936-5931, 11/2018, Volume 30, Issue 3, p. 318
Intellectual disability (ID) is a heterogeneous entity defined as a substantial impairment of cognitive and adaptive function with an onset in early childhood... 
Medical research | Anopheles | Analysis | Genes | Genomics | Medicine, Experimental | Seizures (Medicine) | Nucleotide sequencing | DNA sequencing
Journal Article
Lancet, The, ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Journal Article
medizinische genetik, ISSN 0936-5931, 12/2015, Volume 27, Issue 4, pp. 369 - 376
Die Mikrozephalie ist definiert als Kopfumfang unterhalb der dritten Perzentile bzw. ein Kopfumfang, der mehr als zwei Standardabweichungen unterhalb des... 
Human Genetics | Pediatrics | Coffin-Siris syndrome | Nicolaides-Baraitser-Syndrom | KIF11 | Syndromale Mikrozephalie | Syndromic microcephaly | EFTUD2 | Coffin-Siris-Syndrom | Ligase IV | Medicine & Public Health | Obstetrics/Perinatology | Nicolaides-Baraitser syndrome | Reproductive Medicine
Journal Article
medizinische genetik, ISSN 0936-5931, 12/2015, Volume 27, Issue 4, p. 369
Die Mikrozephalie ist definiert als Kopfumfang unterhalb der dritten Perzentile bzw. ein Kopfumfang, der mehr als zwei Standardabweichungen unterhalb des... 
Ligases
Journal Article
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1021 - 1028
textabstractInfantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal... 
optic atrophy | basal ganglia | retinopathy | SCAR5 | WDR73 | cerebellar atrophy | Galloway–Mowat | intellectual disability | Cerebellar atrophy | Basal ganglia | Intellectual disability | Optic atrophy | Retinopathy | Galloway-Mowat | PROTEIN | ATROPHY | CONGENITAL CEREBELLAR-ATAXIA | PATTERNS | FAMILY | GENE | GALLOWAY-MOWAT-SYNDROME | GENETICS & HEREDITY | DISORDER | NEPHROTIC SYNDROME | CAMOS | Neuroimaging | Heredodegenerative Disorders, Nervous System - genetics | Microcephaly - genetics | Humans | Child, Preschool | Glomerulonephritis - diagnosis | Molecular Sequence Data | Male | Brain - abnormalities | Young Adult | Hernia, Hiatal - genetics | DNA Mutational Analysis | Nephrosis - diagnosis | Adult | Female | Child | Amino Acid Sequence | Genetic Association Studies | Glomerulonephritis - genetics | Microcephaly - diagnosis | Heredodegenerative Disorders, Nervous System - diagnosis | Nephrosis - genetics | Proteins - genetics | Phenotype | Sequence Alignment | Biopsy | Pedigree | Adolescent | Brain - pathology | Mutation | Proteins - chemistry | Hernia, Hiatal - diagnosis | Cohort Studies | Genetic aspects | Diagnostic imaging | Kidney diseases | Mental illness | Neurodegeneration | Intellectual disabilities | Index Medicus | Life Sciences | Human health and pathology | Genetics | Human genetics | short stature | exome sequencing | Galloway-Mowat syndrome | recessive
Journal Article
medizinische genetik, ISSN 0936-5931, 11/2018, Volume 30, Issue 3, p. 305
Journal Article
Nature, ISSN 0028-0836, 10/2011, Volume 478, Issue 7367, pp. 57 - 63
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 1, pp. 44 - 58
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2010, Volume 42, Issue 11, pp. 1021 - 1026
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, pp. 565 - 572
Journal Article
Pediatric blood & cancer, ISSN 1545-5009, 07/2019, p. e27916
Approximately 10% of all children with cancer are affected by a monogenic cancer predisposition syndrome. This has important implications for both the child... 
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 847 - 855
Journal Article