Skip directly to search
Skip directly to A to Z list
Skip directly to navigation
Skip directly to page options
Skip directly to site content
Start of Search Controls
Search Form Controls
Search The CDC
submit
CDC A-Z Index
MENU
CDC A-Z
SEARCH
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
#
Search Form Controls
Search The CDC
submit
CDC A-Z Index
Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
About
Public Health Genomics Branch
PHGKB Weekly Horizon Scan
Genomics Precision Health Scan
Advanced Molecular Detection Clips
Non-Genomics Precision Health Scan
CDC-authored Publications Scan
Specialized PHGKB
Cancer PHGKB
Diabetes PHGKB
Economic Evaluation PHGKB
Environmental Health PHGKB
Family Health History PHGKB
Health Equity PHGKB
HLBS-PopOmics
Infectious Diseases PHGKB
Implementation Science PHGKB
Neurological Disorders PHGKB
Pharmacogenomics PHGKB
Primary Immune Deficiency Diseases PHGKB
Rare Diseases PHGKB
Reproductive and Child Health PHGKB
All Databases
COVID-19 GPH (47370)
CDC/NIH Web Information Database (32181)
CDC-Authored Genomics and Precision Health Publications Database (5878)
Precision Health Database (63675)
Tier-Classified Guidelines Database (534)
Pathogen Advanced Molecular Detection Database (26775)
All of Us Reports and Publications Database (676)
Human Genome Epidemiology
Human Genome Epidemiology Literature Finder (226516)
Epigenetic Epidemiology Publications Database (22780)
Release Note
Contact Us
Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
All
Cancer
Diabetes
Economic
Environmental
Equity
FHH
HLBS
ID
Implementation
ND
PGx
PI
Rare
RCH
dataset
All
GPH
Non-GPH
Filtered By
:
Select to fine-tune your search
Disease
Gene
Product Type
Category
Year
Previous
Records 1 - 18 (of 18 Records)
Query Trace:
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
Francesca Becherucci et al. Journal of the American Society of Nephrology : JASN 2023
Similar articles in PubMed
A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
Mollataheri Ali et al. Nephron 2023 1-8
Similar articles in PubMed
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Molin Arnaud et al. Frontiers in endocrinology 2021 12736240
Similar articles in PubMed
mTOR-Activating Mutations in RRAGD are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann Karl-Peter et al. Journal of the American Society of Nephrology : JASN 2021
Similar articles in PubMed
Genetics of kidney stone disease-Polygenic meets monogenic.
Halbritter Jan et al. Nephrologie & therapeutique 2021 17SS88-S94
Similar articles in PubMed
Clinical features of genetically confirmed patients with primary hyperoxaluria identified by clinical indication versus familial screening.
Sas David J et al. Kidney international 2019 Dec
Similar articles in PubMed
CLINGEN Actionability Report for Hypophosphatasia-ALPL
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatemic rickets, X-linked dominant-PHEX
ClinGen Actionability Working Group
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia Sergio Camilo et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2019 Feb
Similar articles in PubMed
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.
Najafi Maryam et al. Orphanet journal of rare diseases 2019 Feb 14(1) 41
Similar articles in PubMed
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Daga Ankana et al. Kidney international 2018 93(1) 204-213
Similar articles in PubMed
Recent advances in the identification and management of inherited hyperoxalurias.
Sas David J et al. Urolithiasis 2018 Dec
Similar articles in PubMed
Dent disease in Poland: what we have learned so far?
Zaniew Marcin et al. International urology and nephrology 2017 Nov 49(11) 2005-2017
Similar articles in PubMed
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.
Park Eujin et al. Kidney & blood pressure research 2018 Mar 43(2) 513-521
Similar articles in PubMed
Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.
Halbritter Jan et al. Frontiers in pediatrics 2018 647
Similar articles in PubMed
A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH).
De Paolis Elisa et al. Clinica chimica acta; international journal of clinical chemistry 2018 Mar
Similar articles in PubMed
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.
Pelle Alessandra et al. Journal of nephrology 2017 Apr 30(2) 219-225
Similar articles in PubMed
Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.
Similar articles in PubMed
File Formats Help:
How do I view different file formats (PDF, DOC, PPT, MPEG) on this site?
Adobe PDF file
Microsoft PowerPoint file
Microsoft Word file
Microsoft Excel file
Audio/Video file
Apple Quicktime file
RealPlayer file
Text file
Zip Archive file
SAS file
ePub file
Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
TOP