X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (7) 7
genetics & heredity (5) 5
humans (5) 5
mutation (4) 4
genetic screening (3) 3
infant (3) 3
male (3) 3
adult (2) 2
consanguinity (2) 2
disorders (2) 2
female (2) 2
gene mutations (2) 2
genetic counseling (2) 2
medical genetics (2) 2
seizures (2) 2
acmg guidelines (1) 1
adolescent (1) 1
age (1) 1
aged (1) 1
alkaline phosphatase (1) 1
amino acids (1) 1
amp (1) 1
analysis (1) 1
animals (1) 1
anopheles (1) 1
associations (1) 1
autosomal recessive (1) 1
base sequence (1) 1
biology (1) 1
bone and bones - diagnostic imaging (1) 1
camptodactyly (1) 1
candidate genes (1) 1
carrier testing (1) 1
cataract - diagnosis (1) 1
cataract - genetics (1) 1
cataracts (1) 1
challenges (1) 1
child (1) 1
child, preschool (1) 1
clinical validity (1) 1
collagen type xi - genetics (1) 1
collagenopathies (1) 1
coxa (1) 1
craniofacial abnormalities - diagnosis (1) 1
craniofacial abnormalities - genetics (1) 1
crystal-structure (1) 1
defect (1) 1
defects (1) 1
development (1) 1
developmental disabilities - genetics (1) 1
developmental disabilities - pathology (1) 1
discovery (1) 1
disease (1) 1
dna (1) 1
dna mutational analysis (1) 1
dominance (1) 1
dominant (1) 1
east syndrome (1) 1
education, professional - organization & administration (1) 1
epilepsy (1) 1
ethical aspects (1) 1
exome sequencing (1) 1
exome sequencing reveals (1) 1
facies (1) 1
fbp1 gene (1) 1
founder (1) 1
founder effect (1) 1
frameshift mutation - genetics (1) 1
fructose (1) 1
fructose 2,6-bisphosphate (1) 1
fructose-1,6-bisphosphatase deficiency (1) 1
fructose-1,6-diphosphatase deficiency (1) 1
fructose-1,6-diphosphatase deficiency - ethnology (1) 1
fructose-1,6-diphosphatase deficiency - genetics (1) 1
gene (1) 1
gene mapping (1) 1
genes (1) 1
genes, recessive (1) 1
genetic aspects (1) 1
genetic counseling - organization & administration (1) 1
genetic disease (1) 1
genetic research (1) 1
genetic services (1) 1
genetics (1) 1
genomics (1) 1
hearing impairment (1) 1
hearing loss, sensorineural - diagnosis (1) 1
hearing loss, sensorineural - genetics (1) 1
heterozygote (1) 1
high diploma degree (1) 1
hyperphosphatasia (1) 1
hypoglycemia (1) 1
identification (1) 1
in cis/in trans segregation (1) 1
influence (1) 1
insertion mutation (1) 1
intellectual disabilities (1) 1
intellectual disability (1) 1
kcnj10 (1) 1
kir4.1 (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2850 - 2857
Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive condition caused by an impairment of glycosylphophatidylinositol... 
exome sequencing | alkaline phosphatase | middle‐east | PGAP3 | founder | middle-east | SUBTYPE | SEIZURES | NEUROLOGIC DEFICIT | PIGV MUTATIONS | GENETICS & HEREDITY | Alkaline phosphatase | Missense mutation | Camptodactyly | Hyperphosphatasia | Coxa | Intellectual disabilities | Mutation | Gene mapping | Population genetics | Genetic screening
Journal Article
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 12/2013, Volume 22, Issue 6, pp. 835 - 838
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2017, Volume 11, Issue C, pp. 17 - 23
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD)... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2012, Volume 49, Issue 4, pp. 246 - 248
Journal Article
Journal Article
International Journal of Pediatrics and Adolescent Medicine, ISSN 2352-6467, 03/2016, Volume 3, Issue 1, pp. 1 - 6
Genetic counseling is an evolving field in Saudi Arabia. In 2015, genetic counseling was recognized as a Master's program by the Saudi Commission for Health... 
Preventative reproductive options | Genetic counseling | Saudi | Challenges | Genetic disease | Carrier testing | Review
Journal Article
No results were found for your search.

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