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Publications by Thomy de Ravel
Platelet Defects in Congenital Variant of Rett Syndrome Patients With FOXG1 Mutations or Reduced Expression Due to a Position Effect at 14q12
European Journal of Human Genetics
Genetics
A Syndrome of Short Stature, Microcephaly and Speech Delay Is Associated With Duplications Reciprocal to the Common Sotos Syndrome Deletion
European Journal of Human Genetics
Genetics
Related publications
Genotyping FOXG1 Mutations in Patients With Clinical Evidence of the FOXG1 Syndrome
Molecular Syndromology
Genetics
MESP1 Mutations in Patients With Congenital Heart Defects
Human Mutation
Genetics
Congenital Myasthenic Syndrome Due to DOK7 Mutations in a Family From Chile
European Journal of Translational Myology
Orthopedics
Neurology
Sports Medicine
Cell Biology
Molecular Biology
Prevalence of Congenital Heart Defects in Patients With Down’s Syndrome
Jornal de Pediatria
Child Health
Pediatrics
Perinatology
MECP2 Mutations Associated With Rett Syndrome - Molecular Approaches
Journal of Neonatal Biology
EEG Findings in Patients With Rett Syndrome
Journal of the Turkish Epilepsi Society
Variant Bernard-Soulier Syndrome Type Bolzano. A Congenital Bleeding Disorder Due to a Structural and Functional Abnormality of the Platelet Glycoprotein Ib-Ix Complex.
Journal of Clinical Investigation
Medicine
CDKL5/STK9 Is Mutated in Rett Syndrome Variant With Infantile Spasms
Journal of Medical Genetics
Genetics
Congenital Heart Defects Are Under-Recognised in Adult Patients With Down's Syndrome
Heart
Cardiovascular Medicine
Cardiology
