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Publications by Nicholas V. Grishin

Molecular Characterization of Loss-Of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote

American Journal of Human Genetics

English

Related publications

Identification of a Compound Heterozygote in LYST Gene: A Case Report on Chediak-Higashi Syndrome

BMC Medical Genetics

English

Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient With Compound Heterozygote Mutations of theMEFVGene

Gastroenterology

English

CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation

Frontiers in Molecular Neuroscience

Molecular Neuroscience

Molecular Biology

English

New Molecular Diagnosis Approaches — From the Identification of Mutations to Their Characterization

English

Characterization of Three Kindreds With Familial Combined Hypolipidemia Caused by Loss-Of-Function Mutations of ANGPTL3

Circulation: Cardiovascular Genetics

English

Identification and Characterization of BRCA1 and BRCA2 Founder Mutations

Current Women's Health Reviews

English

Identification and Characterization of AMPK Γ3 Mutations in the Pig

Biochemical Society Transactions

English

Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia

Multidisciplinary

English

Beta-Ketothiolase Deficiency as a Treatable Neurometabolic Disorder: A Case Report Due to a Novel Compound Heterozygote Mutations in ACAT1 Gene

Biomedical Journal of Scientific & Technical Research

English