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Design optimization of offshore wind jacket piles by assessing support structure orientation relative to metocean conditions

Wind Energy Science, 2023-05, Vol.8 (5), p.807-817

2023

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Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD)

European journal of neurology, 2020-11, Vol.27 (11), p.2257-2266

2020

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The Influence of Mechanical, and Material Factors on the Biological Adaptation Processes of the Femoral Bone Implants

Archives of metallurgy and materials, 2016-03, Vol.61 (1), p.189-194

2016

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TRIP-1: A regulator of osteoblast function

Journal of bone and mineral research, 2012-07, Vol.27 (7), p.1576-1584

2012

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LIMB GIRDLE MUSCULAR DYSTROPHIES: P.150 Four individuals with a homozygous mutation in exon 1f of the PLEC gene and associated myasthenic features

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S90-S90

2020

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LIMB GIRDLE MUSCULAR DYSTROPHIES

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S90

2020

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Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A)

PloS one, 2019-01, Vol.14 (1), p.e0209752-e0209752

2019

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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

American journal of human genetics, 2020-12, Vol.107 (6), p.1078-1095

2020

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LGMD

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S108

2021

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LGMD: EP.195 The most common CAPN3 disease causing variant in north-eastern Europe population or controversial coincidence

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S108-S108

2021

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The effects of low-frequency magnetic field exposure on the growth and biochemical parameters in lupin (Lupinus angustifolius L.)

Plant biosystems, 2017-05, Vol.151 (3), p.504-511

2017

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P.186Two patients with PURA syndrome in a large cohort of patients with unexplained muscle disease

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S103-S103

2019

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LIMB GIRDLE MUSCULAR DYSTROPHIES: P.156 Differences in demographic and phenotypic spectrum of genetically solved and unsolved cases in a large cohort of patients with limb girdle weakness

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S92-S92

2020

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LIMB GIRDLE MUSCULAR DYSTROPHIES

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S92

2020

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NEW GENES, NEW TECHNIQUES IN NEUROMUSCULAR DISORDERS: O.10 Loss of function mutations in DNAJB4 cause a myopathy with early respiratory failure

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S160-S160

2021

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NEW GENES, NEW TECHNIQUES IN NEUROMUSCULAR DISORDERS

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S160

2021

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High performance AI based tool for mining and classification of viral genomes in human exposome metadata

EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, Vol.31, p.292

2023

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INFLUENCE OF MAGNETIC FIELD STIMULATION ON THE GROWTH AND BIOCHEMICAL PARAMETERS IN PHASEOLUS VULGARIS L

Journal of microbiology, biotechnology and food sciences, 2016-06, Vol.5 (6), p.548-551

2016

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P.172Identification and characterisation of CAPN3 splicing defect mutations in unexplained cases of LGMD patients from the MYO-SEQ project

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S98-S99

2019

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P.175Detection and interpretation of variants in dystroglycanopathy-causing genes in a cohort of 1,566 patients with unexplained limb-girdle muscle weakness

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S99-S100

2019

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E-POSTERS – NEXT GENERATION SEQUENCING: EP.96"Double trouble" in a large cohort of patients with unexplained muscle weakness

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S180-S180

2019

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P.187CAPN3 c.598_612delTTCTGGAGTGCTCTG: another CAPN3 dominant variant?

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S103-S103

2019

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E-POSTERS – NEXT GENERATION SEQUENCING

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S180

2019

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O.18Recessive mutations in the myosin chaperone UNC-45B impair muscle myofibrillar integrity, manifesting as progressive myopathy with eccentric cores

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S120-S120

2019

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Reference monopile designs for US East Coast sites supporting the IEA 15 MW reference turbine using a novel conceptual design methodology

Ocean engineering, 2024-07, Vol.304, p.117814, Article 117814

2024

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Design optimization of offshore wind jacket piles by assessing support structure orientation relative to metocean conditions

Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD)

The Influence of Mechanical, and Material Factors on the Biological Adaptation Processes of the Femoral Bone Implants

TRIP-1: A regulator of osteoblast function

LIMB GIRDLE MUSCULAR DYSTROPHIES: P.150 Four individuals with a homozygous mutation in exon 1f of the PLEC gene and associated myasthenic features

LIMB GIRDLE MUSCULAR DYSTROPHIES

Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A)

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

LGMD

LGMD: EP.195 The most common CAPN3 disease causing variant in north-eastern Europe population or controversial coincidence

The effects of low-frequency magnetic field exposure on the growth and biochemical parameters in lupin (Lupinus angustifolius L.)

P.186Two patients with PURA syndrome in a large cohort of patients with unexplained muscle disease

LIMB GIRDLE MUSCULAR DYSTROPHIES: P.156 Differences in demographic and phenotypic spectrum of genetically solved and unsolved cases in a large cohort of patients with limb girdle weakness

LIMB GIRDLE MUSCULAR DYSTROPHIES

NEW GENES, NEW TECHNIQUES IN NEUROMUSCULAR DISORDERS: O.10 Loss of function mutations in DNAJB4 cause a myopathy with early respiratory failure

NEW GENES, NEW TECHNIQUES IN NEUROMUSCULAR DISORDERS

High performance AI based tool for mining and classification of viral genomes in human exposome metadata

INFLUENCE OF MAGNETIC FIELD STIMULATION ON THE GROWTH AND BIOCHEMICAL PARAMETERS IN PHASEOLUS VULGARIS L

P.172Identification and characterisation of CAPN3 splicing defect mutations in unexplained cases of LGMD patients from the MYO-SEQ project

P.175Detection and interpretation of variants in dystroglycanopathy-causing genes in a cohort of 1,566 patients with unexplained limb-girdle muscle weakness

E-POSTERS – NEXT GENERATION SEQUENCING: EP.96"Double trouble" in a large cohort of patients with unexplained muscle weakness

P.187CAPN3 c.598_612delTTCTGGAGTGCTCTG: another CAPN3 dominant variant?

E-POSTERS – NEXT GENERATION SEQUENCING

O.18Recessive mutations in the myosin chaperone UNC-45B impair muscle myofibrillar integrity, manifesting as progressive myopathy with eccentric cores

Reference monopile designs for US East Coast sites supporting the IEA 15 MW reference turbine using a novel conceptual design methodology

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