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Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients

Neurology, 2003-06, Vol.60 (11), p.1805-1810

2003

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The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

Journal of medical genetics, 2004-08, Vol.41 (8), p.e104-e104

2004

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Assessing the fidelity of Landsat-based fAPAR models in two diverse sugarcane growing regions

Computers and electronics in agriculture, 2020-03, Vol.170, p.105248, Article 105248

2020

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Illness episodes in a cohort of preterm infants in their first year of life

SAJCH : the South African journal of child health, 2021-04, Vol.15 (1), p.44-49

2021

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An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome

Neurology, 2005-08, Vol.65 (3), p.463-465

2005

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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Brain (London, England : 1878), 2007-06, Vol.130 (6), p.1497-1506

2007

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An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X)

Journal of neurology, neurosurgery and psychiatry, 2005-07, Vol.76 (7), p.1039-1040

2005

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A Coupled Variational Problem of Linear Growth Related to the Denoising and Inpainting of Images

Journal of mathematical sciences (New York, N.Y.), 2017-08, Vol.224 (5), p.709-734

Müller, J.-S.

2017

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Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

Neuromuscular disorders : NMD, 2006-05, Vol.16 (5), p.329-333

2006

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Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Journal of neurology, neurosurgery and psychiatry, 2010-09, Vol.81 (9), p.973-977

2010

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Illness episodes in a cohort of preterm infants in their first year of life

SAJCH : the South African journal of child health, 2021-04, Vol.15 (1), p.44

2021

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Elastic secondary flows in sharp 90 degree micro-bends: A comparison of PEO and DNA solutions

Journal of rheology (New York : 1978), 2010-03, Vol.54 (2), p.375-392

2010

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A purely elastic instability in Taylor–Couette flow

Journal of fluid mechanics, 1990-09, Vol.218 (1), p.573

1990

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Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes

Neurology, 2009-12, Vol.73 (22), p.1926-1928

2009

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Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene

Neuropediatrics, 2004-06, Vol.35 (3), p.183

2004

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Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis

Neuromuscular disorders : NMD, 2006-01, Vol.16 (1), p.4-13

2006

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Cell cycle regulation of a human cyclin-like gene encoding uracil-DNA glycosylase

The Journal of biological chemistry, 1993-01, Vol.268 (2), p.1310-1319

1993

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Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants

European journal of paediatric neurology, 2005, Vol.9 (1), p.7-12

2005

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Lexicon Athanasianum

Muller, Guido

Reprint 2012 edition., 2011

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The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

Neurology, 2008-12, Vol.71 (24), p.1967-1972

2008

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Secondary effects of antioxidant on PS/PVME blends

Polymer (Guilford), 2002-02, Vol.43 (4), p.1567-1570

2002

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Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

Neurology, 2006-10, Vol.67 (7), p.1159-1164

2006

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Flow control in microdevices using thermally responsive triblock copolymers

Journal of microelectromechanical systems, 2005-04, Vol.14 (2), p.207-213

2005

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Receptivity of the turbulent precessing vortex core: synchronization experiments and global adjoint linear stability analysis

Journal of fluid mechanics, 2020-04, Vol.888, Article A3

2020

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Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

Assessing the fidelity of Landsat-based fAPAR models in two diverse sugarcane growing regions

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Illness episodes in a cohort of preterm infants in their first year of life

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X)

A Coupled Variational Problem of Linear Growth Related to the Denoising and Inpainting of Images

Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Illness episodes in a cohort of preterm infants in their first year of life

Elastic secondary flows in sharp 90 degree micro-bends: A comparison of PEO and DNA solutions

A purely elastic instability in Taylor–Couette flow

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes

Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene

Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis

Cell cycle regulation of a human cyclin-like gene encoding uracil-DNA glycosylase

Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants

Lexicon Athanasianum

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

Secondary effects of antioxidant on PS/PVME blends

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

Flow control in microdevices using thermally responsive triblock copolymers

Receptivity of the turbulent precessing vortex core: synchronization experiments and global adjoint linear stability analysis

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