X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (57) 57
humans (55) 55
genetics & heredity (45) 45
female (40) 40
male (36) 36
life sciences (32) 32
mutation (27) 27
phenotype (23) 23
genetics (22) 22
child, preschool (18) 18
infant (17) 17
adult (16) 16
pregnancy (15) 15
child (14) 14
genetic aspects (14) 14
infant, newborn (14) 14
adolescent (11) 11
genetic disorders (11) 11
research (11) 11
analysis (10) 10
gene (10) 10
genotype (10) 10
human genetics (10) 10
abnormalities, multiple - genetics (9) 9
gene mutations (9) 9
genes (9) 9
mutations (9) 9
syndrome (9) 9
genomics (8) 8
human health and pathology (8) 8
magnetic resonance imaging (8) 8
pedigree (8) 8
prenatal diagnosis (8) 8
proteins (8) 8
ultrasonography, prenatal (8) 8
defects (7) 7
diagnosis (7) 7
molecular sequence data (7) 7
retrospective studies (7) 7
abnormalities, multiple - pathology (6) 6
animals (6) 6
france (6) 6
genetic heterogeneity (6) 6
health aspects (6) 6
heart defects, congenital - genetics (6) 6
infectious diseases (6) 6
intellectual disability - genetics (6) 6
risk factors (6) 6
young adult (6) 6
aging (5) 5
amino acid sequence (5) 5
article (5) 5
bardet-biedl syndrome - genetics (5) 5
cognitive ability (5) 5
cohort studies (5) 5
diagnosis, differential (5) 5
dysplasia (5) 5
epilepsy (5) 5
medical research (5) 5
medicine, experimental (5) 5
mice (5) 5
mutation - genetics (5) 5
patients (5) 5
phenotypes (5) 5
pregnant women (5) 5
progeria (5) 5
ultrasound (5) 5
abnormalities (4) 4
anomalies (4) 4
association (4) 4
bardet-biedl syndrome (4) 4
biochemistry & molecular biology (4) 4
biochemistry, molecular biology (4) 4
congenital, hereditary, and neonatal diseases and abnormalities (4) 4
cytogenetics (4) 4
dna mutational analysis (4) 4
face - abnormalities (4) 4
fetus (4) 4
fetuses (4) 4
fibroblasts (4) 4
gene deletion (4) 4
genotype & phenotype (4) 4
heart defects, congenital - diagnosis (4) 4
intellectual disability (4) 4
medical genetics (4) 4
medicine & public health (4) 4
microcephaly (4) 4
microencephaly (4) 4
middle aged (4) 4
osteochondrodysplasias - genetics (4) 4
pathology (4) 4
pediatrics (4) 4
prognosis (4) 4
protein (4) 4
abnormalities, multiple - diagnosis (3) 3
abnormalities, multiple - diagnostic imaging (3) 3
amino acid substitution (3) 3
bardet-biedl-syndrome (3) 3
brain (3) 3
brain - abnormalities (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Medical Genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2011, Volume 19, Issue 5, pp. 602 - 606
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2016, Volume 12, Issue 3, pp. e1005894 - e1005894
Journal Article
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 249 - 255
Journal Article
Human Mutation, ISSN 1059-7794, 09/2015, Volume 36, Issue 9, pp. 894 - 902
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 06/2016, Volume 36, Issue 6, pp. 561 - 567
What's Already Known About This Topic? There are few reports of prenatal findings in CHARGE syndrome. What Does This Study Add? We report prenatal findings of... 
CRITERIA | HEART-DISEASE | MALFORMATIONS | CHOANAL ATRESIA | GENETICS & HEREDITY | MULTIPLE ANOMALIES | CHD7 GENE | PROPOSAL | MUTATIONS | SPECTRUM | ASSOCIATION | OBSTETRICS & GYNECOLOGY | Urogenital Abnormalities - diagnostic imaging | Fetal Growth Retardation - diagnostic imaging | Humans | Infant | Male | Kidney | Ear, External - diagnostic imaging | Craniofacial Abnormalities - diagnostic imaging | Cleft Lip - diagnostic imaging | Female | Retrospective Studies | CHARGE Syndrome - diagnostic imaging | Heart Septal Defects - diagnostic imaging | DNA Helicases - genetics | Infant, Newborn | Ureter - abnormalities | Polyhydramnios - diagnostic imaging | DNA-Binding Proteins - genetics | Thymus Gland - diagnostic imaging | Pregnancy | Ear, External - abnormalities | Thymus Gland - abnormalities | Phenotype | Cerebral Ventricles - abnormalities | Cerebral Ventricles - diagnostic imaging | Ultrasonography, Prenatal | Ureter - diagnostic imaging | Medicine, Experimental | Medical research | Diagnostic imaging | Genetic disorders | Diagnosis | Pregnant women | Neuroimaging | Brain | Congenital defects | Fetuses | Criteria | Medical diagnosis | Choanal atresia | Magnetic resonance imaging | Congenital anomalies | CHARGE syndrome | Diagnostic systems | Mutation | Children | Ultrasound | Microphthalmia | Index Medicus | Life Sciences | Human health and pathology | Infectious diseases
Journal Article
Human Mutation, ISSN 1059-7794, 03/2018, Volume 39, Issue 3, pp. 319 - 332
Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a... 
brain development | brain imaging | ASPM | primary microcephaly | MCPH | centrosome | intellectual disability | DIAGNOSIS | PROTEIN-TRUNCATING MUTATIONS | EVOLUTION | GENE | MAPS | GENETICS & HEREDITY | BRAIN SIZE | PATIENT | PAKISTANI FAMILIES | Microencephaly | Cortex | Cognitive ability | Neural stem cells | Mutation | Neurodevelopmental disorders | Microcephaly | Neurogenesis | Index Medicus | Life Sciences | Genetics
Journal Article
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 10/2019, Volume 28, Issue 4, pp. 205 - 210
Gonadal mosaicism has been reported in a variety of dominant or X-linked conditions and should be considered in all cases of apparent de-novo variation.... 
Index Medicus
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2017, Volume 175, Issue 4, pp. 417 - 430
Journal Article