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Lava field evolution and emplacement dynamics of the 2014–2015 basaltic fissure eruption at Holuhraun, Iceland

Journal of volcanology and geothermal research, 2017-06, Vol.340, p.155-169

2017

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Evidence of a Shallow Magma Reservoir Beneath Askja Caldera, Iceland, From Body Wave Tomography

Geophysical research letters, 2024-05, Vol.51 (9), p.n/a

2024

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Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Clinical genetics, 2004-10, Vol.66 (4), p.333-340

2004

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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Journal of medical genetics, 2001-01, Vol.38 (1), p.14-19

2001

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P009: Improving elderly care transitions through the local adaptation and implementation of the Acute Care for Elderly (ACE) program

Canadian journal of emergency medicine, 2017-05, Vol.19 (S1), p.S80-S80

2017

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New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

Journal of medical genetics, 2007-03, Vol.44 (3), p.e70-e70

2007

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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

Human mutation, 2010-02, Vol.31 (2), p.113-126

2010

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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Human genetics, 2010-05, Vol.127 (5), p.583-593

2010

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Ovarian Fibromatosis and Sotos Syndrome with a New Genetic Mutation

Journal of pediatric & adolescent gynecology, 2013-04, Vol.26 (2), p.e39-e41

2013

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Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

Clinical genetics, 2007-12, Vol.72 (6), p.582-592

2007

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Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations

Journal of medical genetics, 2003-08, Vol.40 (8), p.560-567

2003

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Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

Journal of medical genetics, 2008-09, Vol.45 (9), p.564-571

2008

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Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy

Human genetics, 2011-02, Vol.129 (2), p.149-159

2011

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Laryngeal abnormalities are frequent in the 22q11 deletion syndrome

International journal of pediatric otorhinolaryngology, 2012-01, Vol.76 (1), p.36-40

2012

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PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

Human molecular genetics, 2002-09, Vol.11 (19), p.2243-2249

2002

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Deformation in the Northern Volcanic Zone of Iceland 2008–2014: An interplay of tectonic, magmatic, and glacial isostatic deformation

Journal of geophysical research. Solid earth, 2017-04, Vol.122 (4), p.3158-3178

2017

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Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease

Neurology, 2004-10, Vol.63 (8), p.1535-1535

2004

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Sensorineural hearing loss in OPA1-linked disorders

Brain (London, England : 1878), 2013-07, Vol.136 (Pt 7), p.e236-e236

2013

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Volcano-tectonic interplay at the Askja volcanic system, Iceland: Finite element modeling constrained by geodetic measurements

32nd Nordic Geological Winter Meeting, 13-15 January, 2016, Helsinki, Finland, 2016 (Volcanology S13_8_407), p.301

2016

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Role of Noncoding RNA ANRIL in Genesis of Plexiform Neurofibromas in Neurofibromatosis Type 1

JNCI : Journal of the National Cancer Institute, 2011-11, Vol.103 (22), p.1713-1722

2011

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Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

Human molecular genetics, 2009-08, Vol.18 (15), p.2768-2778

2009

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De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease

Swiss medical weekly, 2012, Vol.142, p.w13670

2012

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Prenatal ultrasound abnormalities in a patient with generalized neurofibromatosis type 1

Neuropediatrics, 1997-04, Vol.28 (2), p.120-121

1997

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Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey

Heart (British Cardiac Society), 2004-08, Vol.90 (8), p.842-846

2004

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OPA1‐related sensorineural hearing loss

Acta ophthalmologica (Oxford, England), 2012-09, Vol.90 (s249), p.0-0

2012

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Lava field evolution and emplacement dynamics of the 2014–2015 basaltic fissure eruption at Holuhraun, Iceland

Evidence of a Shallow Magma Reservoir Beneath Askja Caldera, Iceland, From Body Wave Tomography

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

P009: Improving elderly care transitions through the local adaptation and implementation of the Acute Care for Elderly (ACE) program

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Ovarian Fibromatosis and Sotos Syndrome with a New Genetic Mutation

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy

Laryngeal abnormalities are frequent in the 22q11 deletion syndrome

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

Deformation in the Northern Volcanic Zone of Iceland 2008–2014: An interplay of tectonic, magmatic, and glacial isostatic deformation

Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease

Sensorineural hearing loss in OPA1-linked disorders

Volcano-tectonic interplay at the Askja volcanic system, Iceland: Finite element modeling constrained by geodetic measurements

Role of Noncoding RNA ANRIL in Genesis of Plexiform Neurofibromas in Neurofibromatosis Type 1

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease

Prenatal ultrasound abnormalities in a patient with generalized neurofibromatosis type 1

Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey

OPA1‐related sensorineural hearing loss

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