Suchergebnisse - "Dysostosis"

PubPharm (748)

1

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2

enthalten in: Molecular genetics & genomic medicine | 2024

von Chen, Y. | Yang, R. | Chen, X. | +7

2

The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP)

enthalten in: Scientific reports | 2024

von Gil Rosas, M. | Centola, C. | Torres, M. | +7

3

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

enthalten in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association | 2024

von Ulhaq, Z. | Soraya, G. | Istifiani, L. | +12

4

Molecular landscape of congenital vertebral malformations : recent discoveries and future directions

enthalten in: Orphanet journal of rare diseases | 2024

von Szoszkiewicz, A. | Bukowska-Olech, E. | Jamsheer, A.

5

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions

enthalten in: Orphanet journal of rare diseases | 2024

von Szoszkiewicz, A. | Bukowska-Olech, E. | Jamsheer, A.

6

A Post Market Clinical Follow-up Study on Biomet Microfixation HTR PEKK (Midface), Facial & Mandibular Plates. : Clinical Evaluation of Biomet Microfixation Devices Used in Facial & Mandibular Surgical Procedures. Facial Plating System, HTR PEKK (Midface) and Mandibular Plates: A Post Market Clinical Follow-up Study

enthalten in: ClinicalTrials.gov | 2024

7

Weyers Acrofacial Dysostosis : A Case Report

enthalten in: Cureus | 2024

von Jain, A. | Taksande, A. | Gaikwad, S. | +2

8

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions

in: Orphanet Journal of Rare Diseases | 2024

von Anna Szoszkiewicz | Ewelina Bukowska-Olech | Aleksander Jamsheer

9

3D computer-aided single stage correction of Crouzon related craniofacial and occlusal deformities: A case series of three adult patients

in: Oral and Maxillofacial Surgery Cases | 2024

von Hossam Hassan Fawzy | Hesham Abo Rahma | Moaz Elsheikh | +3

10

The importance of skeletal x-ray screening for dysostosis multiplex in the early diagnosis of mucopolysaccharidosis

enthalten in: Clinical imaging | 2024

von Bilgin, H. | Ayaz, E.

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