Detalhe da pesquisa
1.
History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).
Am J Med Genet A
; 191(5): 1301-1324, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36806455
2.
Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives.
Children (Basel)
; 10(7)2023 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37508737
3.
The Tomographic Study and the Phenotype of Wormian Bones.
Diagnostics (Basel)
; 13(5)2023 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36900016
4.
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia.
Children (Basel)
; 10(10)2023 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37892378
5.
Torticollis in Connection with Spine Phenotype.
Diagnostics (Basel)
; 12(7)2022 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885576
6.
Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.
Diagnostics (Basel)
; 12(10)2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292064
7.
Infantile systemic hyalinosis: Variable grades of severity.
Afr J Paediatr Surg
; 18(4): 224-230, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341308
8.
Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome.
Case Rep Orthop
; 2020: 8747392, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32733727
9.
Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article.
J Investig Med High Impact Case Rep
; 8: 2324709620911771, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32172608
10.
Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.
Clin Rheumatol
; 39(2): 553-560, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628567
11.
Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan.
Medicines (Basel)
; 6(2)2019 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31146331
12.
A constellation of orthopaedic deformities in connection with cartilage oligomeric matrix protein mutation.
Afr J Paediatr Surg
; 16(1): 23-28, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32952136
13.
Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout Syndrome.
Medicines (Basel)
; 6(2)2019 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067823
14.
The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study.
Medicine (Baltimore)
; 98(1): e13780, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30608389
15.
Turning the backbone into an ankylosed concrete-like structure: Case report.
Medicine (Baltimore)
; 97(15): e0278, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29642148
16.
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report.
Medicine (Baltimore)
; 96(12): e6199, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328806
17.
Muscle Weakness: A Misleading Presentation in Children With Distinctive Syndromic Entities (Clinical Case Reports).
J Investig Med High Impact Case Rep
; 5(1): 2324709616689583, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28210640
18.
How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports.
Medicine (Baltimore)
; 96(35): e7863, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28858097
19.
The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva.
J Clin Med Res
; 8(3): 246-53, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26858800
20.
The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report.
Medicine (Baltimore)
; 95(32): e4561, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27512882