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Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia

Platelets (Edinburgh), 2022-05, Vol.33 (4), p.649-651

2022

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Review of Randomized Controlled Trials of Massage in Preterm Infants

Children (Basel), 2017-04, Vol.4 (4), p.21

Niemi, Anna-Kaisa

2017

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Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation

The Journal of pediatrics, 2015-06, Vol.166 (6), p.1455-1461.e1

2015

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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

The New England journal of medicine, 2021-06, Vol.384 (22), p.2159-2161

2021

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A new LC–MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2013-06, Vol.929, p.51-55

2013

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Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2814-2821

2014

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Analysis of functional variants in mitochondrial DNA of Finnish athletes

BMC genomics, 2019-10, Vol.20 (1), p.784-784, Article 784

2019

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Importance of Culturing Primary Lymphocytes at Physiological Oxygen Levels

Proceedings of the National Academy of Sciences - PNAS, 2007-03, Vol.104 (11), p.4547-4552

2007

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Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status

PloS one, 2014-06, Vol.9 (6), p.e100001-e100001

2014

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Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia

Journal of genetic counseling, 2016-10, Vol.25 (5), p.936-944

2016

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Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population

Acta neuropathologica communications, 2020-11, Vol.8 (1), p.187-187, Article 187

2020

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Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience

Pediatric transplantation, 2013-03, Vol.17 (2), p.158-167

2013

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Neonatal Presentations of Metabolic Disorders

Neoreviews (Elk Grove Village, Ill.), 2020-10, Vol.21 (10), p.e649-e662

MD, Anna-Kaisa Niemi

2020

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

Journal of inherited metabolic disease, 2016-11, Vol.39 (6), p.821-829

2016

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Pediatric Integrative Medicine

Pediatrics (Evanston), 2017-09, Vol.140 (3), p.e20171961

2017

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Near-Infrared Spectroscopy in the Diagnostic Evaluation of Mitochondrial Disorders: A Neonatal Intensive Care Unit Case Series

The Journal of pediatrics, 2019-05, Vol.208, p.282-286

2019

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Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes

European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.965-969

2005

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A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.166-170

2005

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Report of two patients and further characterization of interstitial 9p13 deletion—A rare but recurrent microdeletion syndrome?

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2328-2335

2012

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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Nature communications, 2022-07, Vol.13 (1), p.4057-14, Article 4057

2022

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Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2534-2537

2011

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Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.129-132

2014

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Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

Cold Spring Harbor molecular case studies, 2020-02, Vol.6 (1), p.a004705

2020

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Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia

Ultrastructural pathology, 2014-10, Vol.38 (5), p.309-314

2014

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Red and Swollen Umbilical Region

Neoreviews (Elk Grove Village, Ill.), 2018-05, Vol.19 (5), p.e308-e311

2018

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Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia

Review of Randomized Controlled Trials of Massage in Preterm Infants

Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

A new LC–MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood

Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

Analysis of functional variants in mitochondrial DNA of Finnish athletes

Importance of Culturing Primary Lymphocytes at Physiological Oxygen Levels

Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia

Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population

Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience

Neonatal Presentations of Metabolic Disorders

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

Pediatric Integrative Medicine

Near-Infrared Spectroscopy in the Diagnostic Evaluation of Mitochondrial Disorders: A Neonatal Intensive Care Unit Case Series

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects

Report of two patients and further characterization of interstitial 9p13 deletion—A rare but recurrent microdeletion syndrome?

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex

Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia

Red and Swollen Umbilical Region

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