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Publications by A. Metspalu

Whole-Exome Sequencing Identifies a Potential TTN Mutation in a Multiplex Family With Inguinal Hernia

Hernia : the journal of hernias and abdominal wall surgery
Surgery
2016English

Analysis of Polymorphisms in the SRD5A2 Gene and Semen Parameters in Estonian Men

Journal of Andrology
2009English

Related publications

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Journal of Human Genetics
Genetics
2018English

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

BioMed Research International
ImmunologyMolecular BiologyBiochemistryMicrobiology MedicineGenetics
2015English

Whole-Exome Sequencing in a Japanese Family With Highly Aggregated Diabetes Identifies a Candidate Susceptibility Mutation in ADAMTSL3

Diabetes Research and Clinical Practice
Internal MedicineEndocrinologyMetabolismMedicineDiabetes
2018English

Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy

PLoS ONE
Multidisciplinary
2013English

Whole Exome Sequencing Identifies a New Mutation in the SLC19A2 Gene Leading to Thiamine‐responsive Megaloblastic Anemia in an Egyptian Family

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Exome Sequencing in a Consanguineous Family Clinically Diagnosed With Early-Onset Alzheimer's Disease Identifies a Homozygous CTSF Mutation

Neurobiology of Aging
AgingGerontologyDevelopmental BiologyGeriatricsNeuroscienceNeurology
2016English

Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family With Autosomal Dominant Pulverulent Cataract

Molecular Syndromology
Genetics
2016English

Whole‑exome Sequencing Identifies a Novel Mutation (R367G) in SCN5A to Be Associated With Familial Cardiac Conduction Disease

Molecular Medicine Reports
OncologyGeneticsMolecular BiologyBiochemistryCancer ResearchMolecular Medicine
2017English

Whole Exome Sequencing Identifies a Novel Hedgehog-Interacting Protein G516R Mutation in Locally Advanced Papillary Thyroid Cancer

International Journal of Molecular Sciences
Organic ChemistryMolecular BiologyTheoretical ChemistryInorganic ChemistryComputer Science ApplicationsSpectroscopyMedicineCatalysisPhysical
2018English

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