X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
autosomal recessive (2) 2
genetics & heredity (2) 2
humans (2) 2
male (2) 2
mutation (2) 2
mutations (2) 2
young adult (2) 2
adolescent (1) 1
adult (1) 1
aged (1) 1
aged, 80 and over (1) 1
analysis (1) 1
antigens, cd - genetics (1) 1
aplasia (1) 1
aplasia cutis congenital (1) 1
atm (1) 1
binding protein-3 (1) 1
body mass index (1) 1
cacna1s (1) 1
calcium channels - genetics (1) 1
carcinoma - epidemiology (1) 1
carcinoma - genetics (1) 1
case-control studies (1) 1
channelopathies (1) 1
charcot-marie-tooth (1) 1
chinese women (1) 1
clinical exome sequencing (1) 1
cmt1a (1) 1
colon-cancer (1) 1
colorectal cancer (1) 1
colorectal neoplasms - epidemiology (1) 1
colorectal neoplasms - genetics (1) 1
consanguineous population (1) 1
creatine kinase - blood (1) 1
diabetes mellitus, type 2 - epidemiology (1) 1
diagnostic imaging (1) 1
diagnostic yield (1) 1
dna (1) 1
dna mutational analysis (1) 1
dna sequencing (1) 1
energy-balance (1) 1
epidermolysis-bullosa (1) 1
exosc (1) 1
exosc gene family (1) 1
family (1) 1
female (1) 1
form (1) 1
g1057d polymorphism (1) 1
gene (1) 1
gene family (1) 1
gene frequency (1) 1
genes (1) 1
genetic disorders (1) 1
genetic research (1) 1
genotype (1) 1
growth-factor-i (1) 1
hereditary ataxia (1) 1
hypokalemic periodic paralysis (1) 1
index medicus (1) 1
insulin pathway genes (1) 1
insulin receptor substrate proteins - genetics (1) 1
insulin-like growth factor binding protein 3 - genetics (1) 1
insulin-like growth factor i - genetics (1) 1
insulin-like-growth-factor-1 (1) 1
intellectual disabilities (1) 1
intellectual disability (1) 1
iran (1) 1
iran - epidemiology (1) 1
iranian families (1) 1
itgb4 (1) 1
medical research (1) 1
medicine, experimental (1) 1
medicine, general & internal (1) 1
metabolism (1) 1
middle aged (1) 1
multiplex ligation-dependent probe amplification (1) 1
muscular diseases - genetics (1) 1
neuromuscular disorders (1) 1
newborn (1) 1
next-generation sequencing (1) 1
normokalemic (1) 1
nose (1) 1
nucleotide sequencing (1) 1
obesity - epidemiology (1) 1
oncology (1) 1
pcr-rflp (1) 1
periodic paralysis (1) 1
phenotype (1) 1
phenotypes (1) 1
physical characteristics (1) 1
plec1 (1) 1
pmp22 (1) 1
polymorphism (1) 1
polymorphism, restriction fragment length (1) 1
polymorphism, single nucleotide (1) 1
pontocerebellar hypoplasia (1) 1
progeny (1) 1
protective factors (1) 1
pyloric atresia (1) 1
receptor (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1547 - 1555
Aplasia cutis congenita (ACC) is a heterogeneous group of disorders characterized by localized or widespread absence of skin. ACC can occur isolated or as part... 
aplasia cutis congenital | total skin aplasia | ITGB4 | PLEC1 | autosomal recessive | PYLORIC ATRESIA | GENE | NEWBORN | FORM | GENETICS & HEREDITY | EPIDERMOLYSIS-BULLOSA | MUTATIONS | Family | Skin | Genetic disorders | Analysis | Progeny | Aplasia | Physical characteristics | Nose | Index Medicus
Journal Article
Archives of Iranian Medicine, ISSN 1029-2977, 09/2017, Volume 20, Issue 9, pp. 617 - 620
The calcium channel, voltage-dependent, L-type, alpha 1 S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent... 
Channelopathies | Next-generation sequencing | Normokalemic | CACNA1S | Periodic paralysis | MEDICINE, GENERAL & INTERNAL | periodic paralysis | next-generation sequencing | DNA | channelopathies | HYPOKALEMIC PERIODIC PARALYSIS | normokalemic | Metabolism | Mutation
Journal Article
Asian Pacific Journal of Cancer Prevention, ISSN 1513-7368, 2013, Volume 14, Issue 9, pp. 5011 - 5016
Background: Several epidemiological studies have shown associations between colorectal cancer (CRC) risk and type 2 diabetes and obesity. Any effects would be... 
Insulin pathway genes | PCR-RFLP | Colorectal cancer | Polymorphism | INSULIN-LIKE-GROWTH-FACTOR-1 | SHANGHAI BREAST-CANCER | RECEPTOR | polymorphism | insulin pathway genes | CHINESE WOMEN | ENERGY-BALANCE | COLON-CANCER | ONCOLOGY | BINDING PROTEIN-3 | TYPE-2 DIABETES-MELLITUS | GROWTH-FACTOR-I | G1057D POLYMORPHISM
Journal Article
Archives of Iranian medicine, 09/2017, Volume 20, Issue 9, p. 617
The calcium channel, voltage-dependent, L-type, alpha 1S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent... 
Young Adult | Creatine Kinase - blood | DNA Mutational Analysis | Humans | Male | Muscular Diseases - genetics | Mutation | Calcium Channels - genetics | Whole Exome Sequencing
Journal Article
No results were found for your search.

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