New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Por um escritor misterioso

Descrição

New insights into genetic variant spectrum and genotype–phenotype  correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients -  Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
New insights into genetic variant spectrum and genotype–phenotype  correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients -  Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability - Hussain - The Journal of Gene Medicine - Wiley Online Library
New insights into genetic variant spectrum and genotype–phenotype  correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients -  Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints
New insights into genetic variant spectrum and genotype–phenotype  correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients -  Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
PDF) Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
New insights into genetic variant spectrum and genotype–phenotype  correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients -  Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
New insights into genetic variant spectrum and genotype–phenotype  correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients -  Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
New insights into genetic variant spectrum and genotype–phenotype  correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients -  Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
PDF) Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
New insights into genetic variant spectrum and genotype–phenotype  correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients -  Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability - Hussain - The Journal of Gene Medicine - Wiley Online Library
New insights into genetic variant spectrum and genotype–phenotype  correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients -  Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
PDF) Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly
New insights into genetic variant spectrum and genotype–phenotype  correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients -  Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
de por adulto (o preço varia de acordo com o tamanho do grupo)