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Publications by Cornelis Jakobs
The Difference Between Rare and Exceptionally Rare: Molecular Characterization of Ribose 5-Phosphate Isomerase Deficiency
Journal of Molecular Medicine
Molecular Medicine
Drug Discovery
Genetics
Characterization of Novel SLC6A8 Variants With the Use of Splice-Site Analysis Tools and Implementation of a Newly Developed LOVD Database
European Journal of Human Genetics
Genetics
Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity
American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics
Psychiatry
Molecular Neuroscience
Mental Health
Genetics
Cellular
SSIEM Reflections 2004–2010: The Growing Stature of Our Society
Journal of Inherited Metabolic Disease
Genetics
Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1
American Journal of Human Genetics
Genetics
Identification of Methyl-Branched Chain Dicarboxylic Acids in Amniotic Fluid and Urine in Propionic and Methylmalonic Acidemia
Pediatric Research
Child Health
Pediatrics
Perinatology
231 EFFECTS OF EARLY POSTNATAL RECOMBINANT HUMAN GROWTH HORMONE (rhGH) TREATMENT ON PROTEIN METABOLISM IN INTRA UTERINE GROWTH RETARDED (IUGR) PRETERM INFANTS: A Pilot Study
Pediatric Research
Child Health
Pediatrics
Perinatology
Dynamic Rerouting of the Carbohydrate Flux Is Key to Counteracting Oxidative Stress
Journal of Biology