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Publications by Celia Kaye

703 De Novo 9: 11 Translocation in a Sporadic Case of Trichorhino Phalangeal (I) Syndrome

Pediatric Research

English

Related publications

Parental Mosaicism in De Novo Translocation (21q21q) Down's Syndrome.

Journal of Medical Genetics

English

Shwachman Syndrome Associated With De Novo Reciprocal Translocation T(6;12)(q16.2;q21.2).

Journal of Medical Genetics

English

Genetic Variation Affects De Novo Translocation Frequency

Multidisciplinary

Philosophy of Science

English

Exome Sequencing of Case-Unaffected-Parents Trios Reveals Recessive and De Novo Genetic Variants in Sporadic ALS

Scientific Reports

Multidisciplinary

English

Exome Sequencing to Identify De Novo Mutations in Sporadic ALS Trios

Nature Neuroscience

English

Sporadic Hypertrophic Cardiomyopathy Due to De Novo Myosin Mutations.

Journal of Clinical Investigation

English

A Novel TRPS1 Mutation in a Moroccan Family With Tricho-Rhino-Phalangeal Syndrome Type III: Case Report

BMC Medical Genetics

English

Novel Y Chromosome Breakpoint in an Infertile Male With a De Novo Translocation T(Y;16): A Case Report

Journal of Assisted Reproduction and Genetics

Reproductive Medicine

Developmental Biology

English

De Novo Mutations in Sporadic Deletional Duchenne Muscular Dystrophy (DMD) Cases

Experimental & Molecular Medicine

English