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PubPharm (59)
1
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1 : A single-center case series of 15 patients and seven novel TRPS1 variants
enthalten in:
European journal of medical genetics
| 2024
von
Herlin, L.
|
Herlin, M.
|
Blechingberg, J.
| +11
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2
Pycnodysostosis : Characteristics of teeth, mouth and jaws
enthalten in:
Orthodontics & craniofacial research
| 2024
von
Ferlias, N.
|
Gjørup, H.
|
Doherty, M.
| +1
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3
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark
enthalten in:
JAMA dermatology
| 2024
von
Herlin, L.
|
Schmidt, S.
|
Hermann, X.
| +14
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4
Craniofacial morphology in adults with osteogenesis imperfecta-A cross-sectional study
enthalten in:
Orthodontics & craniofacial research
| 2023
von
Gjørup, H.
|
Jacobsen, P.
|
Hald, J.
| +1
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5
Pycnodysostosis in children and adults
enthalten in:
Bone
| 2023
von
Hald, J.
|
Beck-Nielsen, S.
|
Gregersen, P.
| +2
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6
A pilot study comparing optical coherence tomography, radiography, clinical photography, and polarisation microscopy for studies of hypomineralisation disturbances in enamel
enthalten in:
Heliyon
| 2023
von
Solgaard Henriksen, J.
|
Lauridsen, E.
|
Gjørup, H.
| +6
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7
Obstructive sleep apnoea in pycnodysostosis : A three-dimensional upper airway analysis
enthalten in:
Orthodontics & craniofacial research
| 2022
von
Ferlias, N.
|
Gjørup, H.
|
Doherty, M.
| +2
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8
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant : how do we detect families with rare cancer predisposition syndromes?
enthalten in:
Familial cancer
| 2022
von
Jensen, J.
|
Skakkebæk, A.
|
Gaustadness, M.
| +5
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9
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient
enthalten in:
European journal of medical genetics
| 2021
von
Bolund, A.
|
Langdahl, B.
|
Laurberg, T.
| +6
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10
Three-dimensional analysis of craniofacial morphology in patients with pycnodysostosis
enthalten in:
Orthodontics & craniofacial research
| 2021
von
Ferlias, N.
|
Gjørup, H.
|
Aagaard Doherty, M.
| +2
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BMC oral health
4
Acta odontologica Scandinavica
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Calcified tissue international
4
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3
BMC dermatology
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European journal of medical genetics
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Acta dermato-venereologica
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Heliyon
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Thema
32
Journal Article
9
Research Support, Non-U.S. Gov't
7
Case Reports
6
Oligodontia
4
Cephalometry
4
Craniofacial morphology
4
Ectodermal dysplasia
4
Enamel
4
Review
4
Vitamin-D-dependent rickets type 1A
4
X-linked hypophosphatemia
3
Avulsion
3
Blunt root
3
Bone densitometry
3
Collagen
3
Colon polyps
3
Colorectal cancer
3
Comparative Study
3
Dental anomalies
3
Dental manifestation
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Erscheinungszeitraum
19
2020-
32
2010-2019
8
2000-2009
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1
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