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Publications by Melissa Haendel

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

American Journal of Human Genetics
Genetics
2019English

IRF2BPL Is Associated With Neurological Phenotypes

American Journal of Human Genetics
Genetics
2018English

De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

American Journal of Human Genetics
Genetics
2019English

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics
Genetics
2019English

Capturing Phenotypes for Precision Medicine

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2015English

The Influence of Disease Categories on Gene Candidate Predictions From Model Organism Phenotypes

Journal of Biomedical Semantics
Computer NetworksComputer Science ApplicationsHealth InformaticsInformation SystemsCommunications
2014English

The Health Care and Life Sciences Community Profile for Dataset Descriptions

PeerJ
GeneticsMolecular BiologyBiochemistryBiological SciencesMedicineAgriculturalNeuroscience
2016English

Dealing With Data: A Case Study on Information and Data Management Literacy

2015English

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