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Publications by Philippe Gorry

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

Frontiers in Physiology

English

La Dysplasie Cléido-Crânienne : Attitudes Thérapeutiques Et Recommandations. À Propos d'Une Observation Clinique

Actualités Odonto-Stomatologiques

English

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Detection of a Novel Mutation in the CACNA1A Gene

Twin Research and Human Genetics

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A Short Tutorial in Analyzing NGS Data of Cancer Genomes for Somatic Mutation Calling

BMC Bioinformatics

Applied Mathematics

Computer Science Applications

Structural Biology

Molecular Biology

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A Case of Vitamin D-Dependent Rickets Type 1A With a Novel Mutation in the Uzbek Population

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate

American Journal of Human Genetics

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A Novel Mutation Thr162Arg of the Melanocortin 4 Receptor Gene in a Spanish Children and Adolescent Population

Clinical Endocrinology

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Mutation and Selection in a Large Population

Molecular Biology

Applied Mathematics

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A Case Report of a Symptomatic Osteopoikilosis Patient Caused by Novel Mutation in LEMD3

Endocrine Abstracts

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P1.09-13 Detection of Actionable Mutations in Plasma cfDNA Samples From NSCLC Patients Using a Novel Amplicon-Based Firefly NGS Assay

Journal of Thoracic Oncology

Respiratory Medicine

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Novel Mutations and Mutation Combinations of Ryanodine Receptor in a Chlorantraniliprole Resistant Population of Plutella Xylostella (L.)

Scientific Reports

Multidisciplinary

English