PDF) Identification of de novo EP300 and PLAU variants in a

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PDF) Identification of de novo EP300 and PLAU variants in a
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
PDF) Identification of de novo EP300 and PLAU variants in a
The impact of rare germline variants on human somatic mutation processes
PDF) Identification of de novo EP300 and PLAU variants in a
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers
PDF) Identification of de novo EP300 and PLAU variants in a
Frontiers Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development
PDF) Identification of de novo EP300 and PLAU variants in a
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
PDF) Identification of de novo EP300 and PLAU variants in a
Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases
PDF) Identification of de novo EP300 and PLAU variants in a
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
PDF) Identification of de novo EP300 and PLAU variants in a
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research - Foreman - 2022 - Human Mutation - Wiley Online Library
PDF) Identification of de novo EP300 and PLAU variants in a
Exome sequencing study of 20 patients with high myopia [PeerJ]
PDF) Identification of de novo EP300 and PLAU variants in a
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
PDF) Identification of de novo EP300 and PLAU variants in a
Human genetics and molecular genomics of Chiari malformation type 1: Trends in Molecular Medicine
PDF) Identification of de novo EP300 and PLAU variants in a
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
PDF) Identification of de novo EP300 and PLAU variants in a
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
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