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Publications by Elisa Rahikkala

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

American Journal of Human Genetics
Genetics
2015English

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

American Journal of Human Genetics
Genetics
2019English

Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

JAMA Neurology
Neurology
2016English

Microdeletion of 7p12.1p13, Including IKZF1 , Causes Intellectual Impairment, Overgrowth, and Susceptibility to Leukaemia

British Journal of Haematology
Hematology
2018English

Ataxia-Pancytopenia Syndrome With SAMD9L Mutations

Neurology: Genetics
NeurologyGenetics
2017English

Novel Variants and Phenotypes Widen the Phenotypic Spectrum of GABRG2-related Disorders

Seizure : the journal of the British Epilepsy Association
MedicineNeurology
2019English

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