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OFD1
Hydroxylation of the Eukaryotic Ribosomal Decoding Center Affects Translational Accuracy
A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
Splicing-Correcting Therapeutic Approaches for Retinal Dystrophies: Where Endogenous Gene Regulation and Specificity Matter
Ciliopathies Gene Panel
OFD1 and Flotillins Are Integral Components of a Ciliary Signaling Protein Complex Organized by Polycystins in Renal Epithelia and Odontoblasts
X-Linked Diseases: Susceptible Females
Ciliary Exclusion of Polycystin-2 Promotes Kidney Cystogenesis in an Autosomal Dominant Polycystic Kidney Disease Model
Ciliary Dyneins and Dynein Related Ciliopathies
From Zebrafish Heart Jogging Genes to Mouse and Human Orthologs: Using Gene Ontology to Investigate Mammalian Heart Development. [Version 2; Peer Review: 2 Approved]
OFD1 Infosheet 6-20-19
Supplementary Information – Postema Et Al., the Genetics of Situs Inversus Totalis Without Primary Ciliary Dyskinesia
Whole-Exome Sequencing Identifies Causative Mutations in Families
A Transposon Screen Identifies Loss of Primary Cilia As a Mechanism of Resistance to SMO Inhibitors
Genome-Wide Screening in Human Kidney Organoids Identifies Novel Aspects of Nephrogenesis
The Kinesin Spindle Protein Inhibitor Filanesib Enhances the Activity of Pomalidomide and Dexamethasone in Multiple Myeloma
Ciliary Genes in Renal Cystic Diseases
MVL - Institutional & Self-Pay Test Price List *All Prices Are for Institutional Clients and Self-Pay ONLY
Dampened Hedgehog Signaling but Normal Wnt Signaling in Zebrafish Without Cilia Peng Huang* and Alexander F
Top View
Context-Dependent Regulation of Wnt Signaling Through the Primary Cilium
A Novel Presentation of Oral-Facial-Digital Syndrome Type 1
Glomerulocystic Kidney Disease in Mice with a Targeted Inactivation of Wwtr1
Digital Syndrome 1
Pathogenic Mutations in TULP1 Responsible for Retinitis Pigmentosa Identified in Consanguineous Familial Cases
Supplemental Solier
Cilia—Where Two Wnts Collide
Genomic Copy Number Variation in Mus Musculus Locke Et Al
Ciliopathies
Autophagy and Regulation of Cilia Function and Assembly
Congenital Stationary Night Blindness; RS: Retinoschisis
Oral-Facial-Digital Syndrome
Oral-Facial-Digital Syndromes by Joseph R Siebert Phd (Dr
Kidneyseq™ V4 – 312 Genes CAKUT Branchiooculofacial Syndrome AD
Update on Oral-Facial-Digital Syndromes
The Oral–Facial–Digital Syndromes Result from the Pleiotropic Effect of a Morphogenetic Im- Pairment Affecting Almost Invariably the Mouth, Face and Digits
From Zebrafish Heart Jogging Genes to Mouse and Human Orthologs: Using Gene Ontology to Investigate Mammalian Heart Development
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample