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Nephronophthisis
Educational Paper Ciliopathies
Unraveling the Genetics of Joubert and Meckel-Gruber Syndromes
Evolving Concepts in Human Renal Dysplasia
Histone Deacetylase 6 Represents a Novel Drug Target in the Oncogenic Hedgehog Signaling Pathway
Abstracts from the 51St European Society of Human Genetics Conference: Electronic Posters
Irish Rare Kidney Disease Network (IRKDN)
Meckel–Gruber Syndrome: an Update on Diagnosis, Clinical Management, and Research Advances
Supplemental Table 1 List of Genes Differentially Expressed In
Ciliopathies
Ciliary Genes in Renal Cystic Diseases
Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Department of Pathology and Laboratory Medicine
Department of Pathology & Laboratory Medicine
Investigating Nephronophthisis Using a Novel Murine And
Topics Symposia
Gö-VIP- 23: Knut Brockmann, Simone Schröder Name Der Einrichtung
Renal Cysts of Inv/Inv Mice Resemble Early Infantile Nephronophthisis
Nephronophthisis, a Pediatric Challenge CASE REPORT
Top View
Congenital Kidney and Urinary Tract Anomalies: a Review for Nephrologists
Abscess Central Nervous System 465 Periprostatic 322 ACDMPV See
Nephronophthisis: Disease Mechanisms of a Ciliopathy
Pathology.Pre-Test.Pdf
Renal-Hepatic-Pancreatic Dysplasia: a Sibship with Skeletal and Central Nervous System Anomalies and NPHP3 Mutation Lawrence Copelovitch,1* Maureen M
Blueprint Genetics Congenital Hepatic Fibrosis Panel
Clinicopathologic Features of Hepatic Involvement in Senior-Loken Syndrome: a Case Report and Review of Litera- Ture
Can We Predict Severity of Renal Dysplasia Antenatally ?
Nephronophthisis
Ciliopathies
1 Supplementary Material Appendix 1 Read Codes to Identify a Child With
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract
Ellis-Van Creveld Syndrome Accompanied by Cleft Glans Penis- Epispadias: a Case Report
Nephronophthisis
Meckel-Gruber Syndrome Precision Panel Overview
Nephronophthisis Summary
Nephronophthisis Medullary Cystic Disease
Abstracts from the 52Nd European Society of Human Genetics (ESHG) Conference: Posters
MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome
Ellis–Van Creveld Syndrome with Facial Dysmorphic Features in An
Nephronophthisis
Disease of the Month
Cyst Formation in Proximal Renal Tubules Caused by Dysfunction Of
Orphacode Renal Diagnoses
Does Nek8 Link Polycystic Kidney Disease and Published Online Ahead of Print
Paediatric Nephrology
Prevalence and Incidence of Rare Diseases
Overview of Nephronophthisis: a Genetically Jul 2016; Published Date: 12 Jul 2016
Two Novel TCTN2 Mutations Cause Meckel–Gruber Syndrome
Nephronophthisis-A Genetic Cause of Ciliopathy
Molecular Pathology and Genetics of Congenital Hepatorenal Fibrocystic Syndromes C a Johnson, P Gissen, C Sergi
Exploring the Spectrum of Kidney Ciliopathies
Transverse Myelitis-Association with Coxsackie B3 Infection?
Conference 1 5 September 2007
Molecular Genetics of Nephronophthisis and Medullary Cystic Kidney Disease
Code Book CODAP Version 2017
Cystic Kidney Diseases: Many Ways to Form a Cyst
Blueprint Genetics Meckel Syndrome Panel