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Publications by Rolph Pfundt
Gain of Glycosylation in Integrin Α3 Causes Lung Disease and Nephrotic Syndrome
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
Accurate Distinction of Pathogenic From Benign CNVs in Mental Retardation
PLoS Computational Biology
Molecular Neuroscience
Evolution
Ecology
Genetics
Behavior
Molecular Biology
Systematics
Simulation
Cellular
Computational Theory
Mathematics
Modeling
Chromosomal Abnormalities in Hepatic Cysts Point to Novel Polycystic Liver Disease Genes
European Journal of Human Genetics
Genetics
Parental Insertional Balanced Translocations Are an Important Cause of Apparently De Novo CNVs in Patients With Developmental Anomalies
European Journal of Human Genetics
Genetics
Next Generation Sequencing in Synovial Sarcoma Reveals Novel Gene Mutations
Oncotarget
Oncology
Phenotypic Characterization of an Older Adult Male With Late-Onset Epilepsy and a Novel Mutation in ASXL3 Shows Overlap With the Associated Bainbridge-Ropers Syndrome
Neuropsychiatric Disease and Treatment
Integrating Healthcare and Research Genetic Data Empowers the Discovery of 49 Novel Developmental Disorders
Holoprosencephaly and Preaxial Polydactyly Associated With a 1.24 Mb Duplication Encompassing FBXW11 at 5q35.1
Journal of Human Genetics
Genetics
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