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Publications by Martin Zenker

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics
Genetics
2017English

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

American Journal of Human Genetics
Genetics
2019English

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

American Journal of Human Genetics
Genetics
2014English

Mutations in Six Nephrosis Genes Delineate a Pathogenic Pathway Amenable to Treatment

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2018English

Correction To: The Landscape of Epilepsy-Related GATOR1 Variants

Genetics in Medicine
MedicineGenetics
2018English

Genotype and Phenotype in Patients With Noonan Syndrome and a RIT1 Mutation

Genetics in Medicine
MedicineGenetics
2016English

Neonatal Progeria: Increased Ratio of Progerin to Lamin a Leads to Progeria of the Newborn

European Journal of Human Genetics
Genetics
2012English

A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts

American Journal of Human Genetics
Genetics
2004English

An Unexpected New Role of Mutant Ras: Perturbation of Human Embryonic Development

Journal of Molecular Medicine
Molecular MedicineDrug DiscoveryGenetics
2007English

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