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Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey

Genetics in Medicine Open, 2023, Vol.1 (1), p.100808, Article 100808

2023

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An overview of MODIS capabilities for ocean science observations

IEEE transactions on geoscience and remote sensing, 1998-07, Vol.36 (4), p.1250-1265

1998

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Reduced Protein Phosphatase 2A Activity Induces Hyperphosphorylation and Altered Compartmentalization of Tau in Transgenic Mice

The Journal of biological chemistry, 2001-10, Vol.276 (41), p.38193-38200

2001

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Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

Wellcome open research, 2017, Vol.2, p.75

2017

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Regional to global assessments of phytoplankton dynamics from the SeaWiFS mission

Remote sensing of environment, 2013-08, Vol.135, p.77-91

2013

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Efficient on-column conversion of IgG₁ trisulfide linkages to native disulfides in tandem with Protein A affinity chromatography

Journal of Chromatography A, 2010-08, Vol.1217 (32), p.5225-5232

2010

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Depression of glutamatergic transmission by nociceptin in the neonatal rat hemisected spinal cord preparation in vitro

British journal of pharmacology, 1996-09, Vol.119 (2), p.189-190

1996

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The effects of anomalous atmospheres on the accuracy of infrared sea-surface temperature retrievals: Dry air layer intrusions over the tropical ocean

Remote sensing of environment, 2014-01, Vol.140, p.450-465

2014

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Dare to think rare: diagnostic delay and rare diseases

British journal of general practice, 2018-05, Vol.68 (670), p.224-225

Evans, William Rh

2018

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Functional Expression of Human PP2Ac in Yeast Permits the Identification of Novel C-terminal and Dominant-negative Mutant Forms

The Journal of biological chemistry, 1999-08, Vol.274 (34), p.24038-24046

1999

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"One plate/three-reporter" assay format for the detection and validation of yeast two-hybrid interactions

BioTechniques, 2004-11, Vol.37 (5), p.840-843

2004

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Diet restriction and ageing in the dog: major observations over two decades

British journal of nutrition, 2008-04, Vol.99 (4), p.793-805

2008

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Rare diseases in general practice: recognising the zebras among the horses

British journal of general practice, 2016-11, Vol.66 (652), p.550-551

2016

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Purification of an Fc-fusion biologic: Clearance of multiple product related impurities by hydrophobic interaction chromatography

Journal of Chromatography A, 2008-01, Vol.1177 (2), p.265-271

2008

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Genetic cancer risk assessment in general practice: systematic review of tools available, clinician attitudes, and patient outcomes

British journal of general practice, 2019-04, Vol.69 (681), p.177-178

Evans, Will Rh

2019

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The predicted β12–β13 loop is important for inhibition of PP2Acα by the antitumor drug fostriecin

FEBS letters, 2001-06, Vol.498 (1), p.110-115

2001

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Niemann-Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment

BJPsych Bulletin, 2017-04, Vol.41 (2), p.109-114

2017

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Validation of a SeaWiFS dust-correction methodology in the Mediterranean Sea: Identification of an algorithm-switching criterion

Remote sensing of environment, 2009-12, Vol.113 (12), p.2689-2700

2009

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Active-site mutations impairing the catalytic function of the catalytic subunit of human protein phosphatase 2A permit baculovirus-mediated overexpression in insect cells

Biochemical journal, 2001-07, Vol.357 (Pt 1), p.225-232

2001

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Influence of lifetime food restriction on causes, time, and predictors of death in dogs

Journal of the American Veterinary Medical Association, 2005-01, Vol.226 (2), p.225

2005

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How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners

Journal of community genetics, 2020-07, Vol.11 (3), p.377-386

2020

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Antagonism of mGlu Receptors and Potentiation of EPSCs at Rat Spinal Motoneurones In Vitro

Neuropharmacology, 1997-03, Vol.36 (3), p.313-318

1997

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Antagonism of baclofen-induced depression of whole-cell synaptic currents in spinal dorsal horn neurones by the potent GABAB antagonist CGP55845

Neuropharmacology, 1993-12, Vol.32 (12), p.1437-1440

1993

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Un-United Medial Epicondyle of the Humerus: Radiographic Prevalence and Association with Elbow Osteoarthritis in a Cohort of Labrador Retrievers

Veterinary surgery, 2009-02, Vol.38 (2), p.169-172

2009

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Use of the caudolateral curvilinear osteophyte as an early marker for future development of osteoarthritis associated with hip dysplasia in dogs

Journal of the American Veterinary Medical Association, 2004-07, Vol.225 (2), p.233

2004

Volltextzugriff (PDF)

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Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey

An overview of MODIS capabilities for ocean science observations

Reduced Protein Phosphatase 2A Activity Induces Hyperphosphorylation and Altered Compartmentalization of Tau in Transgenic Mice

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

Regional to global assessments of phytoplankton dynamics from the SeaWiFS mission

Efficient on-column conversion of IgG₁ trisulfide linkages to native disulfides in tandem with Protein A affinity chromatography

Depression of glutamatergic transmission by nociceptin in the neonatal rat hemisected spinal cord preparation in vitro

The effects of anomalous atmospheres on the accuracy of infrared sea-surface temperature retrievals: Dry air layer intrusions over the tropical ocean

Dare to think rare: diagnostic delay and rare diseases

Functional Expression of Human PP2Ac in Yeast Permits the Identification of Novel C-terminal and Dominant-negative Mutant Forms

"One plate/three-reporter" assay format for the detection and validation of yeast two-hybrid interactions

Diet restriction and ageing in the dog: major observations over two decades

Rare diseases in general practice: recognising the zebras among the horses

Purification of an Fc-fusion biologic: Clearance of multiple product related impurities by hydrophobic interaction chromatography

Genetic cancer risk assessment in general practice: systematic review of tools available, clinician attitudes, and patient outcomes

The predicted β12–β13 loop is important for inhibition of PP2Acα by the antitumor drug fostriecin

Niemann-Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment

Validation of a SeaWiFS dust-correction methodology in the Mediterranean Sea: Identification of an algorithm-switching criterion

Active-site mutations impairing the catalytic function of the catalytic subunit of human protein phosphatase 2A permit baculovirus-mediated overexpression in insect cells

Influence of lifetime food restriction on causes, time, and predictors of death in dogs

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners

Antagonism of mGlu Receptors and Potentiation of EPSCs at Rat Spinal Motoneurones In Vitro

Antagonism of baclofen-induced depression of whole-cell synaptic currents in spinal dorsal horn neurones by the potent GABAB antagonist CGP55845

Un-United Medial Epicondyle of the Humerus: Radiographic Prevalence and Association with Elbow Osteoarthritis in a Cohort of Labrador Retrievers

Use of the caudolateral curvilinear osteophyte as an early marker for future development of osteoarthritis associated with hip dysplasia in dogs

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