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The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 915 - 925
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and... 
VAN-CREVELD-SYNDROME | DYNC2H1 MUTATIONS | GENE | DISEASE | GENETICS & HEREDITY | CILIOPATHY | RIB-POLYDACTYLY SYNDROME | CILIA | KIDNEY | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT PROTEIN | Bone and Bones - pathology | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Male | Intracellular Signaling Peptides and Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Ellis-Van Creveld Syndrome - pathology | Gene Knockdown Techniques | Bone and Bones - metabolism | Kidney Diseases, Cystic - genetics | Ectodermal Dysplasia - pathology | Female | Intracellular Signaling Peptides and Proteins - genetics | Cytoplasmic Dyneins - metabolism | Dyneins - metabolism | Amino Acid Sequence | European Continental Ancestry Group - genetics | Craniosynostoses - genetics | Cytoplasmic Dyneins - genetics | Retinitis Pigmentosa - genetics | Cerebellar Ataxia - pathology | Fibroblasts - pathology | Zebrafish - genetics | Kidney Diseases, Cystic - pathology | Phenotype | Animals | Cerebellar Ataxia - genetics | Epistasis, Genetic | Alleles | Ectodermal Dysplasia - genetics | Dyneins - genetics | Mutation | Bone and Bones - abnormalities | Retinitis Pigmentosa - pathology | Craniosynostoses - pathology | Physiological aspects | Ciliata | Genetic aspects | Research | Gene expression | Biological transport, Active | Index Medicus | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 833 - 843
Journal Article
Journal of Immunology, ISSN 0022-1767, 10/2012, Volume 189, Issue 8, pp. 3957 - 3969
The lectin pathway of complement is an important component of innate immunity. Its activation has been thought to occur via recognition of pathogens by... 
SYSTEM | INDIVIDUALS | PATTERN-RECOGNITION MOLECULES | COMPLEMENT FACTOR-D | MBL | 3MC SYNDROME | STOICHIOMETRY | MUTATIONS | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | Craniofacial Abnormalities - immunology | Transcriptional Activation - genetics | Complement Pathway, Mannose-Binding Lectin - immunology | Blepharoptosis - genetics | Eye Abnormalities - enzymology | Mannose-Binding Protein-Associated Serine Proteases - physiology | Eye Abnormalities - immunology | Humans | Heart Defects, Congenital - immunology | Craniosynostoses - enzymology | Blepharoptosis - immunology | Developmental Disabilities - genetics | Transcriptional Activation - immunology | Strabismus - genetics | Abdominal Muscles - abnormalities | Abnormalities, Multiple - immunology | Heart Defects, Congenital - genetics | Developmental Disabilities - enzymology | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Mannose-Binding Protein-Associated Serine Proteases - genetics | Complement Pathway, Alternative - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Strabismus - enzymology | Abdominal Muscles - immunology | Craniosynostoses - genetics | Complement Pathway, Mannose-Binding Lectin - genetics | Cryptorchidism - enzymology | Abdominal Muscles - enzymology | Hip Dislocation, Congenital - genetics | Codon, Nonsense | Eye Abnormalities - genetics | Animals | Craniofacial Abnormalities - enzymology | Craniosynostoses - immunology | Cryptorchidism - immunology | Hip Dislocation, Congenital - immunology | Complement Pathway, Alternative - immunology | Strabismus - immunology | Abnormalities, Multiple - enzymology | Developmental Disabilities - immunology | Hip Dislocation, Congenital - enzymology | Cryptorchidism - genetics
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 125 - 138
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2010, Volume 5, Issue 3, p. e9632
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 595 - 606
Journal Article
Journal Article