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Sotos syndrome
Megalencephaly and Macrocephaly
The First Non-Invasive Prenatal Test That Screens for Single-Gene Disorders
Metacarpophalangeal Pattern Profile Analysis in Sotos Syndrome
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders
Regional Genetic Consultation Service
Abstracts Books 2014
Jaw Keratocysts and Sotos Syndrome
Soonerstart Automatic Qualifying Syndromes and Conditions
Workshop Schedule
(12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub
Craniosynostosis Precision Panel Overview Indications Clinical Utility
Vistara Non-Invasive Prenatal Screen
Adults with Sotos Syndrome: Review of 21 Adults with Molecularly Confirmed NSD1 Alterations, Including a Detailed Case Report of the Oldest Person Matthew R
Episign Brochure
Sotos Syndrome
EUROCAT Syndrome Guide
Book No. 1 Single Pages
Prenatal Microarray Disorders List V19.1
Top View
Gen Genetic Test Genetic Test Subjectkey (NDAR GUID)
Rhode Island Early Intervention ICD-9 and ICD-10 CODES ESTABLISHED CONDITIONS LIST and SIGNIFICANT DEVELOPMENTAL DELAY
Subject Index to Abstracts
Ocular Manifestations of Inherited Diseases Maya Eibschitz-Tsimhoni
Autism Spectrum Disorder Sequencing Panel
Skull & CNS Malformation Craniosynostosis
The Behavioural Phenotype of Sotos Syndrome; a Critical Review
Sotos Syndrome
Exon-Level Array CGH in a Large Clinical Cohort Demonstrates Increased Sensitivity of Diagnostic Testing for Mendelian Disorders
Genetic Disorders Associated with Macrocephaly
7.1 Birth Defects Code List
Metacarpophalangeal Pattern Profile Analysis in Clinical Genetics: an Applied Anthropometric Method
Guidelines for Conducting Birth Defects Surveillance
Frequency of Congenital Craniofacial Malformations in a Brazilian Reference Center 2011; 14(1): 151-60 Paranaíba, L.M.R
Congenital Anomaly Surveillance 2014-2015
Chapter DHS 116 APPENDIX A
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Sotos Syndrome
ICD-10 Coding Manual List of All Reportable Congenital Malformations
EPISIGN V2 List of Disorders and Genes (Page 1 of 3)
Sotos Syndrome: an Educational Guide
Rhode Island Early Intervention
Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel
Treatment of Infants with Syndromic Robin Sequence with Modified
Newborndxtm Advanced Sequencing Evaluation Disorders List
Copy Number Variation Analysis in 189 Romanian Patients with Global Developmental Delay/Intellectual Disability
Patient-Derived Induced Pluripotent Stem Cells (Ipscs)
The Genetics of Microdeletion and Microduplication Syndromes: an Update
Massachusetts Department of Public Health Early Intervention DIAGNOSED CONDITIONS LIST (Effective: October 1, 2015)
Type 1 Established Condition List
Chapter XVII, (Q00-Q99) (Version 23 June 2008)
Genetic Considerations in Early-Onset Scoliosis
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
Clinical Epigenomics: Genome-Wide DNA Methylation Analysis for the Diagnosis of Mendelian Disorders ✉ Bekim Sadikovic 1,2 , Michael A
Hypomelanosis of Ito with Partial Motor Seizure and Hemimegaloencephaly: Case Report
Established Conditions List
A Novel Microdeletion Syndrome at 3Q13.31 Characterised By
The Fragile X Syndrome
Esit Diagnosis List
Animal Models for Human Contiguous Gene Syndromes and Other Genomic Disorders
A Syndrome of Short Stature, Microcephaly and Speech Delay Is Associated with Duplications Reciprocal to the Common Sotos Syndrome Deletion