X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (16) 16
humans (15) 15
genetic aspects (10) 10
mutation (10) 10
genetics & heredity (9) 9
research (9) 9
proteins (8) 8
cilia (6) 6
dendritic cell (6) 6
gene mutations (6) 6
analysis (5) 5
child (5) 5
dysplasia (5) 5
female (5) 5
gene (5) 5
genetic disorders (5) 5
genetics (5) 5
protein (5) 5
animals (4) 4
carrier proteins - genetics (4) 4
cell biology (4) 4
cells (4) 4
cilia - metabolism (4) 4
dendritic cells - cytology (4) 4
exome (4) 4
fibroblasts (4) 4
genomics (4) 4
health aspects (4) 4
intraflagellar transport (4) 4
male (4) 4
mutations (4) 4
pedigree (4) 4
physiological aspects (4) 4
podosomes (4) 4
primary cilia (4) 4
adhesion (3) 3
asphyxiating thoracic dystrophy (3) 3
causes of (3) 3
cells, cultured (3) 3
chronic kidney failure (3) 3
cilia - genetics (3) 3
ciliopathies (3) 3
diagnosis (3) 3
disease (3) 3
fibroblasts - metabolism (3) 3
genes (3) 3
kidney diseases, cystic - genetics (3) 3
leber congenital amaurosis (3) 3
life sciences (3) 3
mechanosensitivity (3) 3
molecular genetics (3) 3
molecular sequence data (3) 3
mutation, missense (3) 3
nephronophthisis (3) 3
pediatrics (3) 3
proteomics (3) 3
report (3) 3
retrograde intraflagellar transport (3) 3
risk factors (3) 3
sense organs (3) 3
signal transduction (3) 3
1506 (2) 2
abnormalities, multiple - genetics (2) 2
adolescent (2) 2
adult (2) 2
alleles (2) 2
article (2) 2
base sequence (2) 2
biochemical research methods (2) 2
biochemistry (2) 2
biochemistry & molecular biology (2) 2
biophysics (2) 2
biosynthesis (2) 2
carrier proteins - metabolism (2) 2
cell adhesion (2) 2
cell differentiation (2) 2
cell movement (2) 2
ciliogenesis (2) 2
ciliopathy (2) 2
clinical genetics (2) 2
comparative genomic hybridization (2) 2
cranioectodermal dysplasia (2) 2
craniofacial abnormalities - genetics (2) 2
cytoplasmic dyneins - genetics (2) 2
defects (2) 2
dendritic cells - metabolism (2) 2
diagnostics (2) 2
ectodermal dysplasia - genetics (2) 2
ellis-van creveld syndrome - genetics (2) 2
exome - genetics (2) 2
exome sequencing (2) 2
flagella - genetics (2) 2
gene expression (2) 2
genetic association studies (2) 2
genomes (2) 2
hek293 cells (2) 2
high-throughput nucleotide sequencing (2) 2
identification (2) 2
jeune syndrome (2) 2
mass spectrometry (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Cell Science, ISSN 0021-9533, 04/2008, Volume 121, Issue 7, pp. 1096 - 1106
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 02/2016, Volume 170, Issue 6, p. 1566
We report an 11-year-old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an... 
Journal Article
by Chaki, Moumita and Airik, Rannar and Ghosh, Amiya K and Giles, Rachel H and Chen, Rui and Slaats, Gisela G and Wang, Hui and Wang, Shaohui and Hurd, Toby W and Zhou, Weibin and Cluckey, Andrew and Gee, Heon Yung and Ramaswami, Gokul and Hong, Chen-Jei and Hamilton, Bruce A and Červenka, Igor and Ganji, Ranjani Sri and Bryja, Vitezslav and Arts, Heleen H and van Reeuwijk, Jeroen and Oud, Machteld M and Letteboer, Stef J.F and Roepman, Ronald and Husson, Hervé and Ibraghimov-Beskrovnaya, Oxana and Yasunaga, Takayuki and Walz, Gerd and Eley, Lorraine and Sayer, John A and Schermer, Bernhard and Liebau, Max C and Benzing, Thomas and Le Corre, Stephanie and Drummond, Iain and Janssen, Sabine and Allen, Susan J and Natarajan, Sivakumar and O’Toole, John F and Attanasio, Massimo and Saunier, Sophie and Antignac, Corinne and Koenekoop, Robert K and Ren, Huanan and Lopez, Irma and Nayir, Ahmet and Stoetzel, Corinne and Dollfus, Helene and Massoudi, Rustin and Gleeson, Joseph G and Andreoli, Sharon P and Doherty, Dan G and Lindstrad, Anna and Golzio, Christelle and Katsanis, Nicholas and Pape, Lars and Abboud, Emad B and Al-Rajhi, Ali A and Lewis, Richard A and Omran, Heymut and Lee, Eva Y.-H.P and Sekiguchi, JoAnn M and Saunders, Rudel and Johnson, Colin A and Garner, Elizabeth and Vanselow, Katja and Andersen, Jens S and Shlomai, Joseph and Nurnberg, Peter and Nurnberg, Gudrun and Levy, Shawn and Smogorzewska, Agata and Otto, Edgar A and Hildebrandt, Friedhelm
Cell, ISSN 0092-8674, 08/2012, Volume 150, Issue 3, pp. 533 - 548
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2011, Volume 48, Issue 6, pp. 390 - 395
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, p. 11491
Journal Article
Frontiers in pediatrics, ISSN 2296-2360, 2018, Volume 6, p. 131
Nephronophthisis (NPH) is the most common monogenic cause of renal failure in children. Treatment options are limited to dialysis and transplantation.... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 864 - 870
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2013, Volume 50, Issue 5, pp. 309 - 323
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2019, Volume 14, Issue 5, p. e0216705
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2017, Volume 54, Issue 9, pp. 624 - 632
Journal Article