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Rapadilino syndrome
Blueprint Genetics Craniosynostosis Panel
Mackenzie's Mission Gene & Condition List
Blueprint Genetics Comprehensive Growth Disorders / Skeletal
Case Report Immunodeficiency in a Child with Rapadilino Syndrome: a Case Report and Review of the Literature
Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders
Craniosynostosis Precision Panel Overview Indications Clinical Utility
Absent Radius (TAR) Syndrome
Nationwide Survey of Baller‑Gerold Syndrome in Japanese Population
Skeletal Dysplasias Precision Panel Overview Indications
Download CGT Exome V2.0
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms
Identification of Novel Compound Heterozygous RECQL4 Mutations and Prenatal Diagnosis of Baller-Gerold Syndrome: a Case Report
Whole Exome Sequencing Gene Package Craniosynostosis, Version 2.2, 31-1-2020
Pathogenic Variants in CDC45 on the Remaining Allele in Patients with a Chromosome 22Q11.2 Deletion Result in a Novel Autosomal Recessive Condition
IFSSH Scientific Committee on Genetics and Hand Surgery
Supplementary Tables 4 and 5-Cleany
The University of Chicago Genetic Services Laboratories
Congenital Disorders of Bone and Blood
Top View
The Versatile RECQL4
Prevalence of Rare Diseases: Bibliographic Data
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the Babyseq Project
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Blueprint Genetics Brachydactyly / Syndactyly Panel
Baller-Gerold Syndrome
British Columbia Laboratory Requisition This Requisition Form, When Completed, Constitutes a Referral to Lifelabs/BC Biomedical Laboratories Physicians
Orphanet Report Series 180 160 Collection 140 Rare Diseases
Craniofacial Information Sheet 06-10-19
The Mutation Spectrum in RECQL4 Diseases
Prevalence and Incidence of Rare Diseases: Bibilographic Data
Genetics of the Patella
Nosology and Classification of Genetic Skeletal Disorders
Complex Genetics of Radial Ray Deficiencies: Screening of a Cohort of 54 Patients
Orphanet Report Series 180 160 Collection 140 Rare Diseases
Baller-Gerold Syndrome Caused by Mutations in the RECQL4 Gene
Orphanet Report Series 180 160 Collection 140 Rare Diseases
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
List of Rare Diseases and Synonyms
Kraniofaciale Malformasjoner
Cleft Lip and Palate Precision Panel Overview Indications Clinical
Orphanet Rep Rt Series
Recessive Gene List V2.0
Genetic Testing Requisition
Adapting Sureselect Enrichment Protocol to the Ion Torrent S5