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Non‐Tidal Ocean Loading Signals of the North and Baltic Sea From Terrestrial Gravimetry, GNSS, and High‐Resolution Modeling

Geophysical research letters, 2024-07, Vol.51 (13), p.n/a

2024

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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Molecular genetics and metabolism, 2014-06, Vol.112 (2), p.160-170

2014

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White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study

Neurology, 2010-07, Vol.75 (1), p.49

2010

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Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

American journal of neuroradiology : AJNR, 2011-08, Vol.32 (7), p.1340-1346

2011

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Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits

Neurology, 2009-03, Vol.72 (12), p.1083

2009

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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Journal of medical genetics, 2010-09, Vol.47 (9), p.608-615

2010

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An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

Clinical genetics, 2009-10, Vol.76 (4), p.372-382

2009

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Expert recommendations for the laboratory diagnosis of MPS VI

Molecular genetics and metabolism, 2012-05, Vol.106 (1), p.73-82

2012

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Screening patients referred to a metabolic clinic for lysosomal storage disorders

Journal of medical genetics, 2011-06, Vol.48 (6), p.422-425

2011

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Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.221-226

2009

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Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

Journal of neurology, neurosurgery and psychiatry, 2005-04, Vol.76 (4), p.592-595

2005

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A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

European journal of medical genetics, 2015-10, Vol.58 (10), p.540-544

2015

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Quantitative effects of hedgehog and decapentaplegic activity on the patterning of the Drosophila wing

Current biology, 1995-04, Vol.5 (4), p.432-440

1995

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Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.241-251

2009

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Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.41-44

2009

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Psychosis and vertical supranuclear opthalmoplegia

Journal of clinical neuroscience, 2008-03, Vol.15 (3), p.370-371

2008

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Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

American journal of medical genetics. Part A, 2008-02, Vol.146A (3), p.389-392

2008

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Images in neuroscience: psychosis and vertical supranuclear opthalmoplegia

Journal of clinical neuroscience, 2008-03, Vol.15 (3), p.291, 370-291

2008

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Psychosis and vertical supranuclear opthalmoplegia

Journal of clinical neuroscience, 2008-03, Vol.15 (3), p.291-291

2008

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HIGHLIGHTS ACROSS MYOLOGY: O.16 Results of a preconception carrier screening trial including severe neuromuscular disorders

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S150-S150

2020

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HIGHLIGHTS ACROSS MYOLOGY

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S150

2020

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A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia

American journal of medical genetics. Part A, 2007-09, Vol.143A (17), p.2029-2034

2007

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A Case of Vascular Ehlers-Danlos Syndrome Presenting as a Non–Compaction Cardiomyopathy

Heart, lung & circulation, 2018, Vol.27, p.S69-S70

2018

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Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin the the hair follicle

The Journal of cell biology, 1993-05, Vol.121 (4), p.855-865

1993

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Secretion of the amino-terminal fragment of the Hedgehog protein is necessary and sufficient for hedgehog signalling in Drosophila

Current biology, 1995-06, Vol.5 (6), p.643-650

1995

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Non‐Tidal Ocean Loading Signals of the North and Baltic Sea From Terrestrial Gravimetry, GNSS, and High‐Resolution Modeling

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study

Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

Expert recommendations for the laboratory diagnosis of MPS VI

Screening patients referred to a metabolic clinic for lysosomal storage disorders

Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C

Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

Quantitative effects of hedgehog and decapentaplegic activity on the patterning of the Drosophila wing

Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency

Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation

Psychosis and vertical supranuclear opthalmoplegia

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

Images in neuroscience: psychosis and vertical supranuclear opthalmoplegia

Psychosis and vertical supranuclear opthalmoplegia

HIGHLIGHTS ACROSS MYOLOGY: O.16 Results of a preconception carrier screening trial including severe neuromuscular disorders

HIGHLIGHTS ACROSS MYOLOGY

A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia

A Case of Vascular Ehlers-Danlos Syndrome Presenting as a Non–Compaction Cardiomyopathy

Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin the the hair follicle

Secretion of the amino-terminal fragment of the Hedgehog protein is necessary and sufficient for hedgehog signalling in Drosophila

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