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

JOURNAL OF THE ENDOCRINE SOCIETY, 2017, Vol.1 (8), p.1006-1011

2017

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

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

2017

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

Yearbook of Paediatric Endocrinology, 2018-09

2018

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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 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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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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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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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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Death in pediatric Cushing syndrome is uncommon but still occurs

European journal of pediatrics, 2015-04, Vol.174 (4), p.501-507

2015

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Human tail: a rare feature of amniotic band syndrome?

Clinical dysmorphology, 2016-01, Vol.25 (1), p.41-43

2016

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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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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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Management and outcomes of foramen magnum stenosis in children with achondroplasia at a single center over 15 years

Journal of neurosurgery. Pediatrics, 2024-11, p.1-9

2024

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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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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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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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Palmitoylated peptide, being derived from the carboxyl-terminal sequence of the integrin α IIb cytoplasmic domain, inhibits talin binding to α IIb β 3

Platelets (Edinburgh), 2014-12, Vol.25 (8), p.619-627

2014

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Palmitoylated peptide, being derived from the carboxyl-terminal sequence of the integrin αIIb cytoplasmic domain, inhibits talin binding to αIIbβ

Platelets (Edinburgh), 2014, Vol.25 (8), p.619-627

2014

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Palmitoylated peptide, being derived from the carboxyl-terminal sequence of the integrin αIIb cytoplasmic domain, inhibits talin binding to αIIbβ3

Platelets (Edinburgh), 2014-12, Vol.25 (8), p.619-627

2014

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Patterns of thyroid hormone levels in pediatric medullary thyroid carcinoma patients on vandetanib therapy

International journal of pediatric endocrinology, 2015-02, Vol.2015 (1), p.3-3, Article 3

2015

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PCSK9 and Lp(a) levels of children born after assisted reproduction technologies

Journal of assisted reproduction and genetics, 2019-06, Vol.36 (6), p.1091-1099

2019

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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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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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Plasma Metabolomic Profiling Suggests Early Indications for Predisposition to Latent Insulin Resistance in Children Conceived by ICSI: e94001

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

2014

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

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

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

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

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

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

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

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

Death in pediatric Cushing syndrome is uncommon but still occurs

Human tail: a rare feature of amniotic band syndrome?

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

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

Management and outcomes of foramen magnum stenosis in children with achondroplasia at a single center over 15 years

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

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

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

Palmitoylated peptide, being derived from the carboxyl-terminal sequence of the integrin α IIb cytoplasmic domain, inhibits talin binding to α IIb β 3

Palmitoylated peptide, being derived from the carboxyl-terminal sequence of the integrin αIIb cytoplasmic domain, inhibits talin binding to αIIbβ

Palmitoylated peptide, being derived from the carboxyl-terminal sequence of the integrin αIIb cytoplasmic domain, inhibits talin binding to αIIbβ3

Patterns of thyroid hormone levels in pediatric medullary thyroid carcinoma patients on vandetanib therapy

PCSK9 and Lp(a) levels of children born after assisted reproduction technologies

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

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

Plasma Metabolomic Profiling Suggests Early Indications for Predisposition to Latent Insulin Resistance in Children Conceived by ICSI: e94001

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

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