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The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules

Human molecular genetics, 2011-12, Vol.20 (24), p.4916-4931

2011

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In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

Molecular psychiatry, 2015-04, Vol.20 (4), p.459-471

2015

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Mechanical behaviour of MgO–C refractory bricks evaluated by stress–strain curves

Ceramics international, 2012-07, Vol.38 (5), p.4035-4047

2012

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Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis

Journal of the American Society of Nephrology, 2001-12, Vol.12 (12), p.2742-2746

2001

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823 Characterizing UVB-irradiated keratinocyte-derived extracellular vesicles in murine dermis

Journal of investigative dermatology, 2024-08, Vol.144 (8), p.S143-S143

2024

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Blue silver: A very sensitive colloidal Coomassie G-250 staining for proteome analysis

Electrophoresis, 2004-05, Vol.25 (9), p.1327-1333

2004

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Germline KRAS mutations cause Noonan syndrome

Nature genetics, 2006-03, Vol.38 (3), p.331-336

2006

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Circulating anti‐actin and anti‐ATP synthase antibodies identify a sub‐set of patients with idiopathic nephrotic syndrome

Clinical and experimental immunology, 2005-09, Vol.141 (3), p.491-499

2005

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Apolipoproteins prevent glomerular albumin permeability induced in vitro by serum from patients with focal segmental glomerulosclerosis

Journal of the American Society of Nephrology, 2001-01, Vol.12 (1), p.143-150

2001

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

American journal of human genetics, 2021-03, Vol.108 (3), p.502-516

2021

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Glomerular clusterin is associated with PKC-α/β regulation and good outcome of membranous glomerulonephritis in humans

Kidney international, 2006-08, Vol.70 (3), p.477-485

2006

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Characterization of a murine gene homologous to the bovine CaCC chloride channel

Gene, 1999-03, Vol.228 (1), p.181-188

1999

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Assessing the Effect of Changing the Average Hematocrit in Red Blood Cell (RBC) Units on the Post- Procedure Hematocrits of Patients Undergoing Erythrocytapheresis

American journal of clinical pathology, 2024-10, Vol.162 (Supplement_1), p.S147-S147

2024

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Comparative study of thermal stability of healthy and focal segmental glomerulosclerosis plasma albumin

Journal of thermal analysis and calorimetry, 2007, Vol.87 (1), p.27-31

2007

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The effect of proteinase inhibitors on glomerular albumin permeability induced in vitro by serum from patients with idiopathic focal segmental glomerulosclerosis

Nephrology, dialysis, transplantation, 2004-08, Vol.19 (8), p.1969-1975

2004

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O08 - A survey of current trends in urinary extracellular vesicle research

European urology open science (Online), 2021-10, Vol.32, p.S174-S174

2021

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A survey of current trends in urinary extracellular vesicle research

European urology open science (Online), 2021-10, Vol.32, p.S174

2021

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Characterization of MgO-based tundish working lining materials, microstructure and properties

Ceramics international, 2014-11, Vol.40 (9), p.14091-14098

2014

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Nephrotic urine prevents increased rat glomerular albumin permeability induced by serum from the same patient with idiopathic nephrotic syndrome

Nephrology, dialysis, transplantation, 2003-04, Vol.18 (4), p.689-693

2003

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Validity of Three Genera of Flying Squirrels: Eoglaucomys, Glaucomys, and Hylopetes

Journal of mammalogy, 1996-02, Vol.77 (1), p.69-83

1996

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Kinetic of liquid-phase reactions catalyzed by acidic resins: the formation of peracetic acid for vegetable oil epoxidation

Applied catalysis. A, General, 2000-04, Vol.197 (1), p.165-173

2000

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Lead content in grapefruit juice and its uptake upon storage in open containers

Journal of the science of food and agriculture, 1994-11, Vol.66 (3), p.405-410

1994

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A New Form of a Mitochondriopathy

Neuropediatrics, 2014, Vol.45 (S 01)

2014

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Congenital Muscular Dystrophy-Dystroglycanopathy (MDDGA1) in a Consanguineous Family with Compound Heterozygous Mutations of the POMT1 Gene and Variable Clinical Severity

Neuropediatrics, 2016, Vol.47 (S 01)

2016

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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

Mechanical behaviour of MgO–C refractory bricks evaluated by stress–strain curves

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis

823 Characterizing UVB-irradiated keratinocyte-derived extracellular vesicles in murine dermis

Blue silver: A very sensitive colloidal Coomassie G-250 staining for proteome analysis

Germline KRAS mutations cause Noonan syndrome

Circulating anti‐actin and anti‐ATP synthase antibodies identify a sub‐set of patients with idiopathic nephrotic syndrome

Apolipoproteins prevent glomerular albumin permeability induced in vitro by serum from patients with focal segmental glomerulosclerosis

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Glomerular clusterin is associated with PKC-α/β regulation and good outcome of membranous glomerulonephritis in humans

Characterization of a murine gene homologous to the bovine CaCC chloride channel

Assessing the Effect of Changing the Average Hematocrit in Red Blood Cell (RBC) Units on the Post- Procedure Hematocrits of Patients Undergoing Erythrocytapheresis

Comparative study of thermal stability of healthy and focal segmental glomerulosclerosis plasma albumin

The effect of proteinase inhibitors on glomerular albumin permeability induced in vitro by serum from patients with idiopathic focal segmental glomerulosclerosis

O08 - A survey of current trends in urinary extracellular vesicle research

A survey of current trends in urinary extracellular vesicle research

Characterization of MgO-based tundish working lining materials, microstructure and properties

Nephrotic urine prevents increased rat glomerular albumin permeability induced by serum from the same patient with idiopathic nephrotic syndrome

Validity of Three Genera of Flying Squirrels: Eoglaucomys, Glaucomys, and Hylopetes

Kinetic of liquid-phase reactions catalyzed by acidic resins: the formation of peracetic acid for vegetable oil epoxidation

Lead content in grapefruit juice and its uptake upon storage in open containers

A New Form of a Mitochondriopathy

Congenital Muscular Dystrophy-Dystroglycanopathy (MDDGA1) in a Consanguineous Family with Compound Heterozygous Mutations of the POMT1 Gene and Variable Clinical Severity

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