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A novel orthotopic mouse model replicates human lung cancer cachexia

Journal of cachexia, sarcopenia and muscle, 2023-06, Vol.14 (3), p.1410-1423

2023

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Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

Journal of neurology, neurosurgery and psychiatry, 2019-03, Vol.90 (3), p.342

2019

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No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

PloS one, 2016-02, Vol.11 (2), p.e0148316-e0148316

2016

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Prader–Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15

The New England journal of medicine, 1992-03, Vol.326 (12), p.807-811

1992

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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.166-173

2012

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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3Mb deletion encompassing GLI2

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.166

2012

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Cloning of the essential myotonic dystrophy region and mapping of the putative defect

Nature (London), 1992-02, Vol.355 (6360), p.548-551

1992

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Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy

Human genetics, 1989-10, Vol.83 (3), p.245-251

1989

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A new proteolipid lipoprotein mutation in Pelizæus-Merzbacher disease

Journal of the neurological sciences, 1997-04, Vol.147 (2), p.215-216

1997

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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

American Journal of Medical Genetics Part A, 2012, Vol.158A (1), p.166-173

2012

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Is There a Need for Including Spiritual Care in Interdisciplinary Rehabilitation of Chronic Pain Patients? Investigating an Innovative Strategy

Pain practice, 2015-09, Vol.15 (7), p.671-687

2015

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Holoprosencephaly
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Array Comparative Genomic Hybridization
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Clinical Neurology
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Deletion
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Genetics & Heredity
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Gli2
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A novel orthotopic mouse model replicates human lung cancer cachexia

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

Prader–Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3Mb deletion encompassing GLI2

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy

A new proteolipid lipoprotein mutation in Pelizæus-Merzbacher disease

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Is There a Need for Including Spiritual Care in Interdisciplinary Rehabilitation of Chronic Pain Patients? Investigating an Innovative Strategy

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