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Publications by Fernando Scaglia

Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 Are Likely Mediated by Complex Low-Copy Repeats

Human Mutation
Genetics
2011English

Mitochondrial Diseases in North America

Neurology: Genetics
NeurologyGenetics
2020English

GNA11 Brain Somatic Pathogenic Variant in an Individual With Phacomatosis Pigmentovascularis

Neurology: Genetics
NeurologyGenetics
2019English

Glucose Metabolism Derangements in Adults With the MELAS M.3243A>G Mutation

Mitochondrion
Molecular MedicineCell BiologyMolecular Biology
2014English

De Novo Missense Variant in the GTPase Effector Domain (GED) of DNM1L Leads to Static Encephalopathy and Seizures

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2019English

Presencia deProscelidodon Patrius(Xenarthra, Scelidotheriinae) en La Formación Chapadmalal (Plioceno Superior), Mar Del Plata, Buenos Aires, Argentina: Implicancias Bioestratigráficas

Ameghiniana
EvolutionEcologySystematicsBehaviorPaleontology
2014English

Activation of Cardiac Cdk9 Represses PGC-1 and Confers a Predisposition to Heart Failure

EMBO Journal
ImmunologyMolecular BiologyBiochemistryMicrobiology NeuroscienceMedicineGenetics
2004English

Ornithine Transcarbamylase Deficiency: A Possible Risk Factor for Thrombosis

Blood
BiochemistryImmunologyCell BiologyHematology
2008English

Redefined Genomic Architecture in 15q24 Directed by Patient Deletion/Duplication Breakpoint Mapping

Human Genetics
Genetics
2009English

Neonatal Presentation of Ventricular Tachycardia and a Reye-Like Syndrome Episode Associated With Disturbed Mitochondrial Energy Metabolism

BMC Pediatrics
Child HealthPediatricsPerinatology
2002English

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