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Pre‐ and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Acta Paediatrica, 2020-10, Vol.109 (10), p.2067-2074

2020

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Ntegrin αΙΙ b β3 as potential biomarker of high on-treatment platelet reactivity to clopidogrel in patients with an acute coronary syndrome

Atherosclerosis, 2016-09, Vol.252, p.e25-e25

2016

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The child with vasculitic rash: a 10-year retrospective study

Journal of the European Academy of Dermatology and Venereology, 2016-10, Vol.30 (10), p.e46-e47

2016

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Inhibition of human platelet aggregation using AIIB derived peptides that maintain AIIBB3 in its low affinity state

Atherosclerosis, 2014-08, Vol.235 (2), p.e265-e265

2014

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Rat perichondrium transplanted to articular cartilage defects forms articular-like, hyaline cartilage

Bone (New York, N.Y.), 2021-10, Vol.151, p.116035-116035, Article 116035

2021

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Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants

Hormone research in paediatrics, 2020, Vol.93 (3), p.164-172

2020

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The synovial microenvironment suppresses chondrocyte hypertrophy and promotes articular chondrocyte differentiation

npj Regenerative medicine, 2022-09, Vol.7 (1), p.51-51, Article 51

2022

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P4467PCSK9 and Lp(a) levels of children born after assisted reproduction technologies: results from a pilot study

European heart journal, 2019-10, Vol.40 (Supplement_1)

2019

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Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant

HORMONE RESEARCH IN PAEDIATRICS, 2018, Vol.90 (Suppl.1), p.424

2018

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Short Stature Due To Two Novel Heterozygous Igf1r Mutations and Response To Gh Treatment

HORMONE RESEARCH IN PAEDIATRICS, 2017, Vol.88 (Suppl. 1), p.130

2017

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Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

Journal of the Endocrine Society, 2017-08, Vol.1 (8), p.1006-1011

2017

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RADIAL EPIPHYSEAL DYSPLASIA IS A COMMON FINDING IN CHILDREN WITH HETEROZYGOUS AGGRECAN MUTATIONS

HORMONE RESEARCH IN PAEDIATRICS, 2017, Vol.88, p.292

2017

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NON-FAMILIAL SHORT STATURE DUE TO A DE NOVO MUTATION IN AGGRECAN

HORMONE RESEARCH IN PAEDIATRICS, 2017, Vol.88, p.504

2017

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Serum YKL-40 levels in naturally conceived children and children born after intracytoplasmic sperm injection: Correlation with metabolic syndrome parameters

Clinical biochemistry, 2011-05, Vol.44 (7), p.536-536

2011

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Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum

HORMONE RESEARCH IN PAEDIATRICS, 2016, Vol.86, p.63

2016

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Wild-Growing and Conventionally or Organically Cultivated Sambucus nigra Germplasm: Fruit Phytochemical Profile, Total Phenolic Content, Antioxidant Activity, and Leaf Elements

Plants (Basel), 2023-04, Vol.12 (8), p.1701

2023

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Synergistic effect of peptide inhibitors derived from the extracellular and intracellular domain of αIIb subunit of integrin αIIbβ3 on platelet activation and aggregation

Platelets (Edinburgh), 2018-01, Vol.29 (1), p.34-40

2018

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Plasma metabolomic profiling suggests early indications for predisposition to latent insulin resistance in children conceived by ICSI

PloS one, 2014-04, Vol.9 (4), p.e94001-e94001

2014

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Short stature and microcephaly in two siblings due to a novel de novo IGF1R variant

Bone Reports, 2020-10, Vol.13, p.100500, Article 100500

2020

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Primary Aldosteronism and ARMC5 Variants

The journal of clinical endocrinology and metabolism, 2015-06, Vol.100 (6), p.E900-E909

2015

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Synergistic effect of peptide inhibitors derived from the extracellular and intracellular domain of α IIb subunit of integrin α IIb β 3 on platelet activation and aggregation

Platelets (Edinburgh), 2018-01, Vol.29 (1), p.34-40

2018

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Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

The journal of clinical endocrinology and metabolism, 2017-02, Vol.102 (2), p.460-469

2017

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Rat perichondrium transplanted to articular cartilage defects forms articular-like, hyaline cartilage

Bone Reports, 2021-04, Vol.14, p.101026, Article 101026

2021

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Pediatric Cushing disease: disparities in disease severity and outcomes in the Hispanic and African-American populations

Pediatric research, 2017-08, Vol.82 (2), p.272-277

2017

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Immunoassay-Based Serum Hepcidin Reference Range Measurements in Healthy Children: Differences Among Age Groups

Journal of clinical laboratory analysis, 2015-01, Vol.29 (1), p.10-14

2015

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Pre‐ and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Ntegrin αΙΙ b β3 as potential biomarker of high on-treatment platelet reactivity to clopidogrel in patients with an acute coronary syndrome

The child with vasculitic rash: a 10-year retrospective study

Inhibition of human platelet aggregation using AIIB derived peptides that maintain AIIBB3 in its low affinity state

Rat perichondrium transplanted to articular cartilage defects forms articular-like, hyaline cartilage

Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants

The synovial microenvironment suppresses chondrocyte hypertrophy and promotes articular chondrocyte differentiation

P4467PCSK9 and Lp(a) levels of children born after assisted reproduction technologies: results from a pilot study

Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant

Short Stature Due To Two Novel Heterozygous Igf1r Mutations and Response To Gh Treatment

Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

RADIAL EPIPHYSEAL DYSPLASIA IS A COMMON FINDING IN CHILDREN WITH HETEROZYGOUS AGGRECAN MUTATIONS

NON-FAMILIAL SHORT STATURE DUE TO A DE NOVO MUTATION IN AGGRECAN

Serum YKL-40 levels in naturally conceived children and children born after intracytoplasmic sperm injection: Correlation with metabolic syndrome parameters

Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum

Wild-Growing and Conventionally or Organically Cultivated Sambucus nigra Germplasm: Fruit Phytochemical Profile, Total Phenolic Content, Antioxidant Activity, and Leaf Elements

Synergistic effect of peptide inhibitors derived from the extracellular and intracellular domain of αIIb subunit of integrin αIIbβ3 on platelet activation and aggregation

Plasma metabolomic profiling suggests early indications for predisposition to latent insulin resistance in children conceived by ICSI

Short stature and microcephaly in two siblings due to a novel de novo IGF1R variant

Primary Aldosteronism and ARMC5 Variants

Synergistic effect of peptide inhibitors derived from the extracellular and intracellular domain of α IIb subunit of integrin α IIb β 3 on platelet activation and aggregation

Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

Rat perichondrium transplanted to articular cartilage defects forms articular-like, hyaline cartilage

Pediatric Cushing disease: disparities in disease severity and outcomes in the Hispanic and African-American populations

Immunoassay-Based Serum Hepcidin Reference Range Measurements in Healthy Children: Differences Among Age Groups

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