X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
mutation (5) 5
amelogenesis imperfecta - genetics (3) 3
female (3) 3
humans (3) 3
index medicus (3) 3
male (3) 3
pedigree (3) 3
teeth (3) 3
amelogenesis imperfecta (2) 2
amelogenesis imperfecta - pathology (2) 2
biomineralization (2) 2
child (2) 2
consanguinity (2) 2
gene mutations (2) 2
genetic aspects (2) 2
genetics (2) 2
genetics & heredity (2) 2
proteins (2) 2
report (2) 2
stomatognathic diseases (2) 2
stomatognathic system (2) 2
young adult (2) 2
adolescent (1) 1
adolescent, adult, amelogenesis imperfecta, child, consanguinity, dental enamel proteins, exome, family health, female, genes, recessive, genetic predisposition to disease, genome-wide association study, humans, male, middle aged, mutation, nephrocalcinosis, pedigree, sequence analysis, dna, syndrome, young adult (1) 1
adolescent; adult; amelogenesis imperfecta/complications; amelogenesis imperfecta/genetics; child; consanguinity; dental enamel proteins/genetics; exome/genetics; family health; female; genes, recessive/genetics; genetic predisposition to disease/genetics; genome-wide association study; humans; male; middle aged; mutation; nephrocalcinosis/complications; nephrocalcinosis/genetics; pedigree; sequence analysis, dna/methods; syndrome; young adult (1) 1
adult (1) 1
airway management (1) 1
ameloblasts - metabolism (1) 1
amelogenesis - genetics (1) 1
amelogenesis imperfecta - complications (1) 1
amelogenesis imperfecta - diagnostic imaging (1) 1
amelogenesis imperfecta - metabolism (1) 1
amino acid sequence (1) 1
analysis (1) 1
anesthesiology (1) 1
candidate genes (1) 1
case report (1) 1
causes of (1) 1
cells (1) 1
children & youth (1) 1
chromosomes, human, pair 15 (1) 1
classification (1) 1
cone-rod dystrophy (1) 1
conserved sequence (1) 1
dental caries (1) 1
dental enamel - metabolism (1) 1
dental enamel proteins - genetics (1) 1
dental extraction (1) 1
difficult intubation (1) 1
disease (1) 1
dna-sequencing data (1) 1
durapatite - metabolism (1) 1
enamel maturation (1) 1
enamel, dental (1) 1
enzymes (1) 1
exome - genetics (1) 1
exons (1) 1
fam20b (1) 1
fam20c (1) 1
fam83h mutations (1) 1
families (1) 1
family health (1) 1
framework (1) 1
gdp/gtp exchange protein (1) 1
gene expression (1) 1
genes, recessive (1) 1
genes, recessive - genetics (1) 1
genetic disorders (1) 1
genetic markers (1) 1
genetic predisposition to disease - genetics (1) 1
genome-wide association study (1) 1
genotype & phenotype (1) 1
haplotypes (1) 1
health aspects (1) 1
hospitals (1) 1
i-cell disease (1) 1
identification (1) 1
immunohistochemistry (1) 1
inherited anomalies (1) 1
insights (1) 1
kohlschutter-tonz syndrome (1) 1
maturation (1) 1
maturation stage ameloblasts (1) 1
medical disorders (1) 1
microsatellite repeats (1) 1
middle aged (1) 1
mmp20 (1) 1
molecular sequence data (1) 1
mouse enamel (1) 1
nephrocalcinosis - complications (1) 1
nephrocalcinosis - genetics (1) 1
nephrocalcinosis - pathology (1) 1
nephrolithiasis (1) 1
nerve tissue proteins - genetics (1) 1
nuclear family (1) 1
original paper (1) 1
pakistan (1) 1
pediatric anesthesia (1) 1
peptides (1) 1
permeability (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


by Jaureguiberry, Graciana and De La Dure-Molla, Muriel and Parry, David and Quentric, Mickael and Himmerkus, Nina and Koike, Toshiyasu and Poulter, James and Klootwijk, Enriko and Robinette, Steven L and Howie, Alexander J and Patel, Vaksha and Figueres, Marie-Lucile and Stanescu, Horia C and Issler, Naomi and Nicholson, Jeremy K and Bockenhauer, Detlef and Laing, Christopher and Walsh, Stephen B and McCredie, David A and Povey, Sue and Asselin, Audrey and Picard, Arnaud and Coulomb, Aurore and Medlar, Alan J and Bailleul-Forestier, Isabelle and Verloes, Alain and Le Caignec, Cedric and Roussey, Gwenaelle and Guiol, Julien and Isidor, Bertrand and Logan, Clare and Shore, Roger and Johnson, Colin and Inglehearn, Christopher and Al-Bahlani, Suhaila and Schmittbuhl, Matthieu and Clauss, François and Huckert, Mathilde and Laugel, Virginie and Ginglinger, Emmanuelle and Pajarola, Sandra and Spartà, Giuseppina and Bartholdi, Deborah and Rauch, Anita and Addor, Marie-Claude and Yamaguti, Paulo M and Safatle, Heloisa P and Acevedo, Ana Carolina and Martelli-Júnior, Hercílio and Dos Santos Netos, Pedro E and Coletta, Ricardo D and Gruessel, Sandra and Sandmann, Carolin and Ruehmann, Denise and Langman, Craig B and Scheinman, Steven J and Ozdemir-Ozenen, Didem and Hart, Thomas C and Hart, P. Suzanne and Neugebauer, Ute and Schlatter, Eberhard and Houillier, Pascal and Gahl, William A and Vikkula, Miikka and Bloch-Zupan, Agnès and Bleich, Markus and Kitagawa, Hiroshi and Unwin, Robert J and Mighell, Alan and Berdal, Ariane and Kleta, Robert
Nephron - Physiology, ISSN 1660-2137, 04/2013, Volume 122, Issue 1-2, pp. 1 - 6
Journal Article
Journal Article
Saudi journal of anaesthesia, ISSN 1658-354X, 05/2010, Volume 4, Issue 2, pp. 105 - 107
I-cell disease (mucolipidosis II) is a rare metabolic disorder resulting from the deficiency of a specific lysosomal enzyme,... 
Enzymes | Ventilation | Airway management | Skin | Hospitals | Children & youth | pediatric anesthesia | difficult intubation | I-cell disease | Dental extraction | Case Report
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, p. 565
  Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive... 
Proteins | Peptides | Teeth | Mutation | Gene expression | Medical disorders | Cells
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, p. 699
Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, nonvital, and without capacity for turnover or repair, it can... 
Proteins | Genotype & phenotype | Genetic disorders | Maturation | Teeth | Mutation
Journal Article
No results were found for your search.

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