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Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

Calcified tissue international, 2019-12, Vol.105 (6), p.681-686

2019

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Spatially Detailed 3D Quantification of Improved Facial Symmetry After Surgery in Children With Unicoronal Synostosis

The Cleft palate-craniofacial journal, 2019-08, Vol.56 (7), p.918-928

2019

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Familial craniosynostosis associated with a microdeletion involving the NFIA gene

Clinical dysmorphology, 2015-07, Vol.24 (3), p.109-112

2015

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Facial Asymmetry in Nonsyndromic and Muenke Syndrome–Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans

The Cleft palate-craniofacial journal, 2021-06, Vol.58 (6), p.687-696

2021

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Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

European journal of medical genetics, 2019-02, Vol.62 (2), p.96-96

2019

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Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

Molecular syndromology, 2020-06, Vol.11 (2), p.83-89

2020

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Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

Clinical dysmorphology, 2019-01, Vol.28 (1), p.41-45

2019

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A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

Clinical dysmorphology, 2018-07, Vol.27 (3), p.71-77

2018

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Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

Clinical case reports, 2017-07, Vol.5 (7), p.1072-1076

2017

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Defining the clinical phenotype of Saul-Wilson syndrome

Genetics in medicine, 2020-05, Vol.22 (5), p.857-866

2020

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THU156 Significantly Improved Annual Height Velocity With Once-Weekly TransCon CNP In Children With Achondroplasia: The ACcomplisH Phase 2, Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation Trial

Journal of the Endocrine Society, 2023-10, Vol.7 (Supplement_1)

2023

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Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

Clinical case reports, 2017, Vol.5 (7), p.1072-1076

2017

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Biomechanical properties of the patellar tendon in children with heritable connective tissue disorders

European journal of applied physiology, 2018-07, Vol.118 (7), p.1301-1307

2018

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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

American journal of human genetics, 2015-04, Vol.96 (4), p.612-622

2015

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

American journal of human genetics, 2018-10, Vol.103 (4), p.553-567

2018

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Relationship between patient presentation and morphology of coronary atherosclerosis by quantitative multidetector computed tomography

European heart journal cardiovascular imaging, 2019-11, Vol.20 (11), p.1221-1230

2019

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The importance of nonobstructive plaque characteristics in symptomatic and asymptomatic coronary artery disease

Journal of cardiovascular computed tomography, 2024-03, Vol.18 (2), p.203-210

2024

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Plexiform neurofibroma of the eye region occurring in patients without neurofibromatosis type 1

Ophthalmic plastic and reconstructive surgery, 2012-11, Vol.28 (6), p.413-415

2012

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Lactic acid bacteria and the human gastrointestinal tract

European journal of clinical nutrition, 1999-05, Vol.53 (5), p.339-350

1999

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Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

Human mutation, 2005-10, Vol.26 (4), p.374-383

2005

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Meeting abstracts from the first European Emergency Medical Services congress (EMS2016): Copenhagen, Denmark. 30 May - 1 June 2016

Scandinavian journal of trauma, resuscitation and emergency medicine, 2017-02, Vol.25 (S1), Article 16

2017

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Influence of intestinal inflammation (IBD) and small and large bowel length on fecal short-chain fatty acids and lactate

Digestive diseases and sciences, 1995-06, Vol.40 (6), p.1372-1380

1995

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Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

Primrose syndrome: Characterization of the phenotype in 42 patients

Spatially Detailed 3D Quantification of Improved Facial Symmetry After Surgery in Children With Unicoronal Synostosis

Familial craniosynostosis associated with a microdeletion involving the NFIA gene

Facial Asymmetry in Nonsyndromic and Muenke Syndrome–Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

Defining the clinical phenotype of Saul-Wilson syndrome

THU156 Significantly Improved Annual Height Velocity With Once-Weekly TransCon CNP In Children With Achondroplasia: The ACcomplisH Phase 2, Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation Trial

Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

Biomechanical properties of the patellar tendon in children with heritable connective tissue disorders

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Relationship between patient presentation and morphology of coronary atherosclerosis by quantitative multidetector computed tomography

Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

The importance of nonobstructive plaque characteristics in symptomatic and asymptomatic coronary artery disease

Plexiform neurofibroma of the eye region occurring in patients without neurofibromatosis type 1

Lactic acid bacteria and the human gastrointestinal tract

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability

Meeting abstracts from the first European Emergency Medical Services congress (EMS2016): Copenhagen, Denmark. 30 May - 1 June 2016

Influence of intestinal inflammation (IBD) and small and large bowel length on fecal short-chain fatty acids and lactate

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