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 (47395)
CDC/NIH Web Information Database (32192)
CDC-Authored Genomics and Precision Health Publications Database (6062)
Precision Health Database (63770)
Tier-Classified Guidelines Database (534)
Pathogen Advanced Molecular Detection Database (26823)
All of Us Reports and Publications Database (681)
Human Genome Epidemiology
Human Genome Epidemiology Literature Finder (226753)
Epigenetic Epidemiology Publications Database (22811)
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: May 03, 2024
. (Total: 63770 Documents since 2012)
All
Cancer
Diabetes
Economic
Equity
Environmental
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 - 11 (of 11 Records)
Query Trace:
Neuromuscular disease genetics in underrepresented populations: increasing data diversity.
Lindsay A Wilson et al. Brain 2023
Similar articles in PubMed
Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases.
Andries Aristomo et al. Journal of neuromuscular diseases 2022
Similar articles in PubMed
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane Andre et al. Journal of neuromuscular diseases 2021
Similar articles in PubMed
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Ten Dam L et al. Journal of neuromuscular diseases 2020 Dec
Similar articles in PubMed
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) patients in India.
Pathak Pankaj et al. Journal of neuromuscular diseases 2020 Dec
Similar articles in PubMed
Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.
Luo Yue-Bei et al. Frontiers in neurology 2020 111014
Similar articles in PubMed
Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
Özyilmaz Berk et al. Annals of human genetics 2019 83(5) 331-347
Similar articles in PubMed
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua Jorge A et al. Orphanet journal of rare diseases 2020 Jan 15(1) 11
Similar articles in PubMed
CLINGEN Actionability Report for Emery-Dreifuss Muscular Dystrophy (AD, XL) - LMNA, EMD, FHL1
ClinGen Actionability Working Group
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna Jakub Piotr et al. Human genomics 2018 12(1) 34
Similar articles in PubMed
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris Elizabeth et al. Orphanet journal of rare diseases 2017 Sep 12(1) 151
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:
May 03, 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