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The Effects of Rudeness on NICU Medical Teams Studied by a New Tool for the Assessment of Decision-Making Group Dynamics

Children (Basel), 2022-09, Vol.9 (10), p.1436

2022

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The Genetics of Glucose-6-Phosphate-Dehydrogenase (G6PD) and Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) Promoter Gene Polymorphism in Relation to Quantitative Biochemical G6PD Activity Measurement and Neonatal Hyperbilirubinemia

Children (Basel), 2023-07, Vol.10 (7), p.1172

2023

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Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management

Genetics in Medicine Open, 2023, Vol.1 (1), p.100828, Article 100828

2023

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Rapid exome sequencing for children with severe acute encephalopathy – A case series

European journal of medical genetics, 2024-04, Vol.68, p.104918-104918, Article 104918

2024

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PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

Genes, 2023-04, Vol.14 (5), p.1031

2023

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Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature

European journal of medical genetics, 2021-08, Vol.64 (8), p.104252-104252, Article 104252

2021

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Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome

The Journal of clinical investigation, 2020-08, Vol.130 (8), p.4081-4093

2020

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IPTRH2/I Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

Genes, 2023-04, Vol.14 (5)

2023

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Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature

Neurochemical research, 2019-10, Vol.44 (10), p.2372-2384

2019

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The Genetics of Glucose-6-Phosphate-Dehydrogenase Promoter Gene Polymorphism in Relation to Quantitative Biochemical G6PD Activity Measurement and Neonatal Hyperbilirubinemia

Children (Basel), 2023-07, Vol.10 (7)

2023

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Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome

The Journal of clinical investigation, 2020-08, Vol.130 (8), p.4081

2020

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Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.232-242

2023

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Umbilical Cord and Neonatal Transthyretin and Their Relationship to Growth and Nutrition in Preterm Infants

Rambam Maimonides medical journal, 2022-04, Vol.13 (2), p.e0012

2022

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Pathogenic variants in glutamyl-tRNA Gln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Nature communications, 2018-10, Vol.9 (1), p.4065

2018

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Mitochondrial superoxide mediates labile iron level: evidence from Mn-SOD-transgenic mice and heterozygous knockout mice and isolated rat liver mitochondria

Free radical biology & medicine, 2013-12, Vol.65, p.143-149

2013

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Assessment of Fecal Exposure Pathways in Low-Income Urban Neighborhoods in Accra, Ghana: Rationale, Design, Methods, and Key Findings of the SaniPath Study

The American journal of tropical medicine and hygiene, 2017-10, Vol.97 (4), p.1020-1032

2017

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The SaniPath Exposure Assessment Tool: A quantitative approach for assessing exposure to fecal contamination through multiple pathways in low resource urban settlements

PloS one, 2020-06, Vol.15 (6), p.e0234364

2020

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Quantification of exposure to fecal contamination in open drains in four neighborhoods in Accra, Ghana

Journal of water and health, 2016-04, Vol.14 (2), p.255-266

2016

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Public toilets and their customers in low-income Accra, Ghana

Environment and urbanization, 2015-10, Vol.27 (2), p.589-604

2015

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Multipathway Quantitative Assessment of Exposure to Fecal Contamination for Young Children in Low-Income Urban Environments in Accra, Ghana: The SaniPath Analytical Approach

The American journal of tropical medicine and hygiene, 2017-10, Vol.97 (4), p.1009-1019

2017

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Linking Women Experiencing Incarceration to Community-Based HIV Pre-Exposure Prophylaxis Care: A Qualitative Study

AIDS education and prevention, 2021-06, Vol.33 (3), p.216-233

2021

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Quantifying Contact with the Environment: Behaviors of Young Children in Accra, Ghana

The American journal of tropical medicine and hygiene, 2016-04, Vol.94 (4), p.920-931

2016

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Within-Compound Versus Public Latrine Access and Child Feces Disposal Practices in Low-Income Neighborhoods of Accra, Ghana

The American journal of tropical medicine and hygiene, 2018-01, Vol.98 (5), p.1250-1259

2018

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Sublingual-swallow immunotherapy with standardized 3-grass pollen extract: a double-blind, placebo-controlled study

Annals of Allergy, Asthma & Immunology, 2007-11, Vol.99 (5), p.453-461

2007

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Atlas de l'Égypte contemporaine

2020

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The Effects of Rudeness on NICU Medical Teams Studied by a New Tool for the Assessment of Decision-Making Group Dynamics

The Genetics of Glucose-6-Phosphate-Dehydrogenase (G6PD) and Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) Promoter Gene Polymorphism in Relation to Quantitative Biochemical G6PD Activity Measurement and Neonatal Hyperbilirubinemia

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management

Rapid exome sequencing for children with severe acute encephalopathy – A case series

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature

Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome

IPTRH2/I Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature

The Genetics of Glucose-6-Phosphate-Dehydrogenase Promoter Gene Polymorphism in Relation to Quantitative Biochemical G6PD Activity Measurement and Neonatal Hyperbilirubinemia

Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome

Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

Umbilical Cord and Neonatal Transthyretin and Their Relationship to Growth and Nutrition in Preterm Infants

Pathogenic variants in glutamyl-tRNA Gln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Mitochondrial superoxide mediates labile iron level: evidence from Mn-SOD-transgenic mice and heterozygous knockout mice and isolated rat liver mitochondria

Assessment of Fecal Exposure Pathways in Low-Income Urban Neighborhoods in Accra, Ghana: Rationale, Design, Methods, and Key Findings of the SaniPath Study

The SaniPath Exposure Assessment Tool: A quantitative approach for assessing exposure to fecal contamination through multiple pathways in low resource urban settlements

Quantification of exposure to fecal contamination in open drains in four neighborhoods in Accra, Ghana

Public toilets and their customers in low-income Accra, Ghana

Multipathway Quantitative Assessment of Exposure to Fecal Contamination for Young Children in Low-Income Urban Environments in Accra, Ghana: The SaniPath Analytical Approach

Linking Women Experiencing Incarceration to Community-Based HIV Pre-Exposure Prophylaxis Care: A Qualitative Study

Quantifying Contact with the Environment: Behaviors of Young Children in Accra, Ghana

Within-Compound Versus Public Latrine Access and Child Feces Disposal Practices in Low-Income Neighborhoods of Accra, Ghana

Sublingual-swallow immunotherapy with standardized 3-grass pollen extract: a double-blind, placebo-controlled study

Atlas de l'Égypte contemporaine

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