Lista de obras - Natalia Gomez-Ospina - Dominio Público Uruguay

A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells

scientific article published on 06 August 2018

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies

artículo científico publicado en 2017

A promoter in the coding region of the calcium channel gene CACNA1C generates the transcription factor CCAT.

artículo científico publicado en 2013

Author Correction: Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

artículo científico publicado en 2020

Building a Professional Identity and an Academic Career Track in Translational Medicine

artículo científico publicado en 2019

CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells

artículo científico publicado en 2019

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

artículo científico publicado en 2016

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

scientific article published on 02 July 2019

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

scientific journal article

Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

artículo científico publicado en 2020

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine

artículo científico publicado en 2016

Gene Editing on Center Stage

article

Genome Editing for Mucopolysaccharidoses

artículo científico publicado en 2020

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

scientific article published on 06 September 2019

Identification of preexisting adaptive immunity to Cas9 proteins in humans

artículo científico publicado en 2019

Molecular and clinical spectra of FBXL4 deficiency.

artículo científico publicado en 2017

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

artículo científico publicado en 2017

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

artículo científico publicado en 2021

Respiratory system involvement in Costello syndrome

artículo científico publicado en 2016

Selective trafficking of non-cell-autonomous proteins mediated by NtNCAPP1.

artículo científico publicado en 2003

State-dependent signaling by Cav1.2 regulates hair follicle stem cell function

artículo científico publicado en 2013

The C terminus of the L-type voltage-gated calcium channel Ca(V)1.2 encodes a transcription factor

artículo científico publicado en 2006

Tomographic evidence for continuous turnover of Golgi cisternae in Pichia pastoris

artículo científico publicado en 2003

Translocation Affecting Sonic Hedgehog Genes in Basal-Cell Carcinoma ⬇️

artículo científico publicado el 7 de junio de 2012

Lista de obras de Natalia Gomez-Ospina

A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies

A promoter in the coding region of the calcium channel gene CACNA1C generates the transcription factor CCAT.

Author Correction: Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

Building a Professional Identity and an Academic Career Track in Translational Medicine

CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine

Gene Editing on Center Stage

Genome Editing for Mucopolysaccharidoses

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

Identification of preexisting adaptive immunity to Cas9 proteins in humans

Molecular and clinical spectra of FBXL4 deficiency.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Respiratory system involvement in Costello syndrome

Selective trafficking of non-cell-autonomous proteins mediated by NtNCAPP1.

State-dependent signaling by Cav1.2 regulates hair follicle stem cell function

The C terminus of the L-type voltage-gated calcium channel Ca(V)1.2 encodes a transcription factor

Tomographic evidence for continuous turnover of Golgi cisternae in Pichia pastoris

Translocation Affecting Sonic Hedgehog Genes in Basal-Cell Carcinoma ⬇️