Lista de obras - G Miltenberger-Miltenyi - Dominio Público Uruguay

Atomic force microscopy-based molecular recognition of a fibrinogen receptor on human erythrocytes

artículo científico publicado en 2010

C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

artículo científico publicado en 2018

Chorea-acanthocytosis presenting as motor neuron disease

artículo científico publicado en 2012

Hypertrophic cardiomyopathy or non-compaction? How the first impression can be wrong

artículo científico publicado en 2011

International Survey of ALS Experts about Critical Questions for Assessing Patients with ALS.

artículo científico

KRAS mutation analysis on low percentage of colon cancer cells: the importance of quality assurance

artículo científico publicado en 2012

Linkage Analysis in a Large Family With Primary Pulmonary Hypertension

scientific article published on 01 March 2002

Molecular characterization of parathyroid tumors from two patients with hereditary colorectal cancer syndromes

scientific article published on 01 September 2012

Mutation spectrum of type I glycogen storage disease in Hungary.

artículo científico publicado en 2005

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

artículo científico publicado en 2003

Novel mutation in long QT syndrome in a patient with prior diagnosis of epilepsy ⬇️

artículo científico publicado el 21 de noviembre de 2011

Novel mutation in the KCNH2 gene associated with long QT syndrome

artículo científico publicado en 2013

Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation-case report and review of literature

artículo científico

Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation

artículo científico publicado en 2013

Primary pulmonary hypertension in children may have a different genetic background than in adults

scientific article published on 04 August 2004

Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31

article

Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population

artículo científico publicado en 2012

Screening for Fabry disease in patients with left ventricular noncompaction

artículo científico publicado en 2019

Lista de obras de G Miltenberger-Miltenyi

Atomic force microscopy-based molecular recognition of a fibrinogen receptor on human erythrocytes

C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

Chorea-acanthocytosis presenting as motor neuron disease

Hypertrophic cardiomyopathy or non-compaction? How the first impression can be wrong

International Survey of ALS Experts about Critical Questions for Assessing Patients with ALS.

KRAS mutation analysis on low percentage of colon cancer cells: the importance of quality assurance

Linkage Analysis in a Large Family With Primary Pulmonary Hypertension

Molecular characterization of parathyroid tumors from two patients with hereditary colorectal cancer syndromes

Mutation spectrum of type I glycogen storage disease in Hungary.

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

Novel mutation in long QT syndrome in a patient with prior diagnosis of epilepsy ⬇️

Novel mutation in the KCNH2 gene associated with long QT syndrome

Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation-case report and review of literature

Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation

Primary pulmonary hypertension in children may have a different genetic background than in adults

Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31

Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population

Screening for Fabry disease in patients with left ventricular noncompaction