X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (31) 31
female (21) 21
male (17) 17
genetics & heredity (13) 13
adult (12) 12
infant, newborn (8) 8
pregnancy (8) 8
prenatal diagnosis (7) 7
child (6) 6
syndrome (6) 6
canada (5) 5
developmental disabilities - genetics (5) 5
pedigree (5) 5
phenotype (5) 5
abnormalities, multiple - genetics (4) 4
chromosome aberrations (4) 4
heterozygote (4) 4
index medicus (4) 4
intellectual disability - genetics (4) 4
obstetrics & gynecology (4) 4
amniocentesis (3) 3
analysis (3) 3
child, preschool (3) 3
genetic research (3) 3
hypophosphatasia - genetics (3) 3
karyotyping (3) 3
mental retardation (3) 3
middle aged (3) 3
mosaicism (3) 3
philately (3) 3
adolescent (2) 2
alleles (2) 2
alpha-fetoproteins - metabolism (2) 2
autosomal recessive inheritance (2) 2
biomarkers (2) 2
chromosome disorders (2) 2
chromosome inversion (2) 2
chromosomes, human, pair 16 (2) 2
developmental delay (2) 2
diagnosis (2) 2
disease (2) 2
down syndrome (2) 2
ethnic groups - genetics (2) 2
fish (2) 2
further section (2) 2
genes (2) 2
genes, recessive (2) 2
genetic aspects (2) 2
genetic carrier screening (2) 2
genetic linkage (2) 2
genetic testing - methods (2) 2
gestational age (2) 2
growth disorders - genetics (2) 2
history, 19th century (2) 2
history, 20th century (2) 2
hydrocephalus - genetics (2) 2
infant (2) 2
joubert syndrome (2) 2
lymphangioma - complications (2) 2
manitoba (2) 2
manitoba - epidemiology (2) 2
medical research (2) 2
mosaic (2) 2
mutation (2) 2
mutations (2) 2
neonatal screening (2) 2
polymerase chain reaction (2) 2
pregnancy outcome (2) 2
research (2) 2
sensitivity and specificity (2) 2
transport (2) 2
ultrasonography (2) 2
13q21 (1) 1
13q32 (1) 1
22q13 deletion (1) 1
3c syndrome (1) 1
550400 - genetics (1) 1
abdomen (1) 1
abnormal (1) 1
abnormalities, multiple (1) 1
abnormalities, severe teratoid (1) 1
acoustics (1) 1
age (1) 1
akathisia (1) 1
alanine transaminase - genetics (1) 1
alkaline phosphatase (1) 1
alkaline phosphatase - blood (1) 1
alkaline phosphatase - deficiency (1) 1
alkaline phosphatase - genetics (1) 1
alkaline-phosphatase gene (1) 1
alpha-fetoproteins - analysis (1) 1
amino-acid substitutions (1) 1
analysis of variance (1) 1
anemia (1) 1
anemia, hemolytic, congenital - genetics (1) 1
anemia, hemolytic, congenital - pathology (1) 1
animals (1) 1
anus, imperforate - genetics (1) 1
arnold-chiari malformation - complications (1) 1
arnold-chiari malformation - genetics (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 10/2001, Volume 69, Issue 4, p. 381
Journal Article
Fetal Diagnosis and Therapy, ISSN 1015-3837, 01/2013, Volume 33, Issue 1, pp. 75 - 78
Neocentromeres are mitotically stable human derivative centromeres without alpha-satellite DNA which are able to provide stability to rearranged chromosome... 
Novel Insights from Clinical Practice | Prenatal diagnosis | Mosaic | Neocentromere | QF-PCR | 13Q32 | 13Q21 | OBSTETRICS & GYNECOLOGY | Pregnancy | Amniocentesis | Centromere | Chromosome Duplication | Humans | Polymerase Chain Reaction | Chromosomes, Human, Pair 13 | Adult | Female | Male | Mosaicism | Chromosome Inversion
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 10/2000, Volume 67, Issue 4, p. 120
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2002, Volume 62, Issue 6, pp. 488 - 494
Journal Article
Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 10/2006, Volume 28, Issue 10, pp. 865 - 866
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2004, Volume 66, Issue 4, pp. 290 - 292
Chodirker BN, Chudley AE. Genetic landmarks through philately epilepsy and clinical genetic issues Epilepsy is a common neurologic disorder. Major advances in... 
GENETICS & HEREDITY | Genetics - history | Europe | History, 20th Century | Humans | Japan | Philately | History, 19th Century | Epilepsy - history | Medical research | Epilepsy
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2003, Volume 63, Issue 4, pp. 268 - 272
Chudley AE and Chodirker BN. Landmarks in genetics through philately: Down syndrome. Down syndrome (DS) is one of the most common chromosomal disorders;... 
GENETICS & HEREDITY | FETUSES | Chromosomes, Human, Pair 21 - genetics | Hobbies | Humans | Down Syndrome - genetics | Philately
Journal Article
GENOMICS, ISSN 0888-7543, 07/1993, Volume 17, Issue 1, pp. 215 - 217
The authors have discovered a single homoallelic nucleotide substitution as the putative cause of the perinatal (lethal) form of hypophosphatasia in Canadian... 
DIAGNOSIS | ALKALINE-PHOSPHATASE GENE | INFANTILE HYPOPHOSPHATASIA | GENETICS & HEREDITY | HUMAN POPULATIONS | HYDROLASES | BASIC BIOLOGICAL SCIENCES | ORGANIC COMPOUNDS | GENE MUTATIONS | POPULATIONS | ALKALINE PHOSPHATASE | ESTERASES | DISEASES | ENZYMES | 550400 - Genetics | METABOLIC DISEASES | MUTATIONS | PROTEINS | PHOSPHATASES
Journal Article
Journal Article
Journal of developmental and behavioral pediatrics : JDBP, ISSN 0196-206X, 02/1999, Volume 20, Issue 1, pp. 72 - 73
Journal Article
Canadian Journal of Public Health / Revue Canadienne de Sante'e Publique, ISSN 0008-4263, 11/1994, Volume 85, Issue 6, pp. 424 - 426
Maternal serum alpha-fetoprotein (MSAFP) levels in 529 non-diabetic aboriginal Canadian women were compared with levels in 13,285 non-diabetic non-aboriginal... 
Women | Statistical median | Pregnancy | Womens health | Neural tube defects | Congenital anomalies | Black people | Gestational age | White people | Abdomen | PUBLIC HEALTH | Canada | Analysis of Variance | Pregnancy - metabolism | Humans | Adult | Female | Indians, North American | Inuits | Pregnancy Outcome | alpha-Fetoproteins - metabolism
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 07/1990, Volume 10, Issue 7, pp. 469 - 472
A case of mosaic isochromosome 20q found on amniocentesis is described. A normal male infant was subsequently born. 
Amniocentesis | Isochromosome 20q | Mosaic | OBSTETRICS & GYNECOLOGY | Humans | Prenatal Diagnosis | Chromosome Aberrations - diagnosis | Male | Chromosome Disorders | Pregnancy | Karyotyping | Adult | Female | Mosaicism | Chromosomes, Human, Pair 20 | Pregnancy Outcome
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.