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Currarino syndrome
The Genetic Heterogeneity of Brachydactyly Type A1: Identifying the Molecular Pathways
Pushing the Limits of Prenatal Ultrasound: a Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3Q Duplication
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Orphanet Report Series Rare Diseases Collection
Spectrum of Mutations and Genotype ± Phenotype Analysis in Currarino Syndrome
Test Catalogue August 2019
Περιεχόμενα: I: GENERAL CONCEPTS 1. Human
Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene D
2 Genetics of Anorectal Malformations
Chromosomal Microarray, Postnatal, Clarisure® Oligo-SNP
ISCA Disease List
Prenatal Microarray Disorders List V19.1
Utviklingsavvik V02
Etiology of Esophageal Atresia and Tracheoesophageal Fistula: “Mind the Gap”
Genomeposter2009.Pdf
Rare Disease Conditions Eligibility Criteria V1.6.0
A STUDY of INCIDENCE of NEURAL TUBE DEFECTS and THEIR PATTERN in a TERTIARY CARE HOSPITAL of GURUGRAM Garg
GENETIC TESTING REQUISITION Please Ship All NON-PRENATAL
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Clinical Characteristics and Treatment of Currarino Syndrome: a Single Institutional Experience
Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (Ii)
Connective Tissue Disorders
Chromosomal Microarray Chromosomal Microarray
NIH Public Access Author Manuscript Am J Med Genet A
Genetic Factors in Esophageal Atresia, Tracheo
Hirschsprung's Disease
Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1
Statistical Analysis Plan
Genetics and Developmental Biology of Closed Dysraphic Conditions
Blueprint Genetics Gastrointestinal Atresia Panel
WES Gene Package Multiple Congenital Anomalie.Xlsx
The Role of De Novo Variants in Formation of Human Anorectal Malformations
3 Genetics, Pathogenesis and Epidemiology of Anorectal Malformations and Caudal Regression Syndrome
The Genetic Landscape and Clinical Implications of Vertebral Anomalies
Uva-DARE (Digital Academic Repository)
Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
Classification, Clinical Features, and Genetics of Neural Tube Defects
Etiology of Caudal Regression Syndrome
WES Gene Package Multiple Congenital Anomalie
Telomeres: a Diagnosis at the End of the Chromosomes Bbadevries, R Winter, a Schinzel, C Van Ravenswaaij-Arts
Currarino Syndrome Presenting As a Cerebrospinal Fluid Leak from the Dermal Sinus Tract: Case Report
Neonatal Ten-Year Retrospective Study on Neural Tube Defects in a Second
Supplementary Materials Supplementary Figure S1
Centogene.Pdf
Clinical Application of Array-Based Comparative Genomic Hybridization
Download Article (PDF)
Currarino Syndrome
Spinal Cord Malformations
Chromosomal Abnormalities Associated with Neural Tube Defects (Ii): Partial Aneuploidy
Download Gene List
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
Case Report Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene
Genetic Factors in Isolated and Syndromic Esophageal Atresia
New Findings for Phenotype-Genotype Correlations in a Large European
Targeted Next‑Generation Sequencing for Research and Diagnostics in Congenital Heart Disease, and Cleft Lip And/Or Palate
OMIM Mendelian Gene List V2.0
Currarino Syndrome As an Etiology of a Neonatal Escherichia Coli Meningitis
Genetic Testing Requisition
Disease ID Disorder Name Gene Symbols OMIM ID