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Publications by C. Nikkolo

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

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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