Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Marco Tartaglia
Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
American Journal of Human Genetics
Genetics
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
American Journal of Human Genetics
Genetics
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
The Interplay Between CD27dull and CD27bright B Cells Ensures the Flexibility, Stability, and Resilience of Human B Cell Memory
Cell Reports
Biochemistry
Genetics
Molecular Biology
RAS Signaling Pathway Mutations and Hypertrophic Cardiomyopathy: Getting Into and Out of the Thick of It
Journal of Clinical Investigation
Medicine
Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Cover Image, Volume 39, Issue 10
Human Mutation
Genetics
A New Bioavailable Fenretinide Formulation With Antiproliferative, Antimetabolic, and Cytotoxic Effects on Solid Tumors
Cell Death and Disease
Molecular Neuroscience
Immunology
Cell Biology
Cancer Research
Cellular
Medicine
A Syndromic Extreme Insulin Resistance Caused by Biallelic POC1A Mutations in Exon 10
European Journal of Endocrinology
Medicine
Endocrinology
Metabolism
Diabetes
Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic Cardiomyopathy
Circulation: Cardiovascular Genetics
1
2
›
