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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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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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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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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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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.225-231

2005

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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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Metabotropic glutamate receptor antagonists, like GABAB antagonists, potentiate dorsal root-evoked excitatory synaptic transmission at neonatal rat spinal motoneurons in vitro

Neuroscience, 1997-02, Vol.78 (1), p.243-250

1997

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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.233-237

2004

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Differential diagnosis of an unusual shoulder articular lesion in an ancient domestic dog (Canis lupus familiaris L., 1758)

International journal of paleopathology, 2013-12, Vol.3 (4), p.282-287

2013

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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

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

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

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

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

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

Metabotropic glutamate receptor antagonists, like GABAB antagonists, potentiate dorsal root-evoked excitatory synaptic transmission at neonatal rat spinal motoneurons in vitro

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

Differential diagnosis of an unusual shoulder articular lesion in an ancient domestic dog (Canis lupus familiaris L., 1758)

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