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Publications by Célia D DeLozier-Blanchet
MEHMO, a Novel Syndrome: Assignment of Disease Locus to Xp21.1–p22.13
European Journal of Human Genetics
Genetics
Related publications
MEHMO (Mental Retardation, Epileptic Seizures, Hypogonadism and -Genitalism, Microcephaly, Obesity), a Novel Syndrome: Assignment of Disease Locus to Xp21.1–p22.13
European Journal of Human Genetics
Genetics
Assignment of the Locus for a New Lethal Neonatal Metabolic Syndrome to 2q33-37
American Journal of Human Genetics
Genetics
Overstressed Response to EIF2S3 Variants in MEHMO Syndrome
Human Mutation
Genetics
Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25
American Journal of Human Genetics
Genetics
Linkage Analysis in Autoimmune Addison’s Disease: NFATC1 as a Potential Novel Susceptibility Locus
PLoS ONE
Multidisciplinary
Development of a Novel Mobile Application to Detect Urine Protein for Nephrotic Syndrome Disease Monitoring
BMC Medical Informatics and Decision Making
Health Policy
Health Informatics
A Fifth Locus for Bardet-Biedl Syndrome Maps to Chromosome 2q31
American Journal of Human Genetics
Genetics
Locus Assignment of Alpha-Globin Structural Mutations by Hybrid-Selected Translation.
Journal of Clinical Investigation
Medicine
A Novel Thymoma-Associated Autoimmune Disease: Anti-Pit-1 Antibody Syndrome
Scientific Reports
Multidisciplinary
