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MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)

Journal of medical genetics, 2015-03, Vol.52 (3), p.195-202

2015

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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.333-341

2024

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Accuracy of determination of the glomerular filtration marker iohexol by European laboratories as monitored by external quality assessment

Clinical chemistry and laboratory medicine, 2019-07, Vol.57 (7), p.1006-1011

2019

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TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

Scientific reports, 2019-07, Vol.9 (1), p.10730-11, Article 10730

2019

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Performance and user-friendliness of the rapid antigen detection tests QuickVue Dipstick Strep A test and DIAQUICK Strep A Blue Dipstick for pharyngotonsillitis caused by Streptococcus pyogenes in primary health care

European journal of clinical microbiology & infectious diseases, 2021-03, Vol.40 (3), p.549-558

2021

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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

Human molecular genetics, 2017-03, Vol.26 (6), p.1070-1077

2017

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Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.579-587

2014

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Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

BMC medical genetics, 2015-10, Vol.16 (1), p.95-95, Article 95

2015

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Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1217-1224

2011

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Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Clinical genetics, 2009-12, Vol.76 (6), p.524-534

2009

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Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1

Ophthalmic genetics, 2011-06, Vol.32 (2), p.83-96

2011

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Genetic and clinical investigation of noonan spectrum disorders

Ekvall, Sara

2012

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A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins

Acta Paediatrica, 2009-04, Vol.98 (4), p.693-698

2009

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Noonan and cardio-facio-cutanenous syndromes: two clinically and genetically overlapping disorders

Journal of medical genetics, 2008, Vol.45 (8), p.500

2008

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Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis

European journal of medical genetics, 2010-05, Vol.53 (3), p.117-121

2010

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Altered Behavior, Physiology, and Metabolism in Fish Exposed to Polystyrene Nanoparticles

Environmental science & technology, 2015-01, Vol.49 (1), p.553-561

2015

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Three-dimensional tracking of small aquatic organisms using fluorescent nanoparticles

PloS one, 2013-11, Vol.8 (11), p.e78498

2013

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Opportunities of consequential and attributional modelling in life cycle assessment of wastewater and sludge management

Journal of cleaner production, 2019-06, Vol.222 (222), p.242-251

2019

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Translocation of 40 nm diameter nanowires through the intestinal epithelium of Daphnia magna

Nanotoxicology, 2016-09, Vol.10 (8), p.1160-1167

2016

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Ecotoxicity screening of seven different types of commercial silica nanoparticles using cellular and organismic assays: Importance of surface and size

NanoImpact, 2019-01, Vol.13, p.100-111

2019

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Stroke and unsteadiness - a cross-sectional study from primary health care

NeuroRehabilitation (Reading, Mass.), 2014-01, Vol.34 (2), p.221-226

2014

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Three-Dimensional Tracking of Small Aquatic Organisms Using Fluorescent Nanoparticles: e78498

PloS one, 2013-11, Vol.8 (11)

2013

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MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Accuracy of determination of the glomerular filtration marker iohexol by European laboratories as monitored by external quality assessment

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

Performance and user-friendliness of the rapid antigen detection tests QuickVue Dipstick Strep A test and DIAQUICK Strep A Blue Dipstick for pharyngotonsillitis caused by Streptococcus pyogenes in primary health care

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1

Genetic and clinical investigation of noonan spectrum disorders

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins

Noonan and cardio-facio-cutanenous syndromes: two clinically and genetically overlapping disorders

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis

Altered Behavior, Physiology, and Metabolism in Fish Exposed to Polystyrene Nanoparticles

Three-dimensional tracking of small aquatic organisms using fluorescent nanoparticles

Opportunities of consequential and attributional modelling in life cycle assessment of wastewater and sludge management

Translocation of 40 nm diameter nanowires through the intestinal epithelium of Daphnia magna

Ecotoxicity screening of seven different types of commercial silica nanoparticles using cellular and organismic assays: Importance of surface and size

Stroke and unsteadiness - a cross-sectional study from primary health care

Three-Dimensional Tracking of Small Aquatic Organisms Using Fluorescent Nanoparticles: e78498

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