Zobrazeno 1 - 10
of 3 930
pro vyhledávání: '"Pycnodysostosis"'
Autor:
Ferlias N; Department of Dentistry and Oral Health, Section of Orthodontics, Aarhus University, Aarhus, Denmark., Gjørup H; Department of Oral and Maxillofacial Surgery, Center for Oral Health in Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Doherty MA; Childhood Cancer Research Group, Danish Cancer Research Institute, Copenhagen, Denmark.; Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Pedersen TK; Department of Dentistry and Oral Health, Section of Orthodontics, Aarhus University, Aarhus, Denmark.; Department of Oral and Maxillofacial Surgery, Aarhus University Hospital, Aarhus, Denmark.
Publikováno v:
Orthodontics & craniofacial research [Orthod Craniofac Res] 2024 Aug; Vol. 27 (4), pp. 656-664. Date of Electronic Publication: 2024 Mar 26.
Autor:
Kannan P; Department of Biotechnology, Sri Ramachandra Institute of Higher Education and Research (DU), Chennai, India., A HB; Department of Biotechnology, Sri Ramachandra Institute of Higher Education and Research (DU), Chennai, India., N MP; Department of Biotechnology, Sri Ramachandra Institute of Higher Education and Research (DU), Chennai, India., D TK; Faculty of Allied Health Science, Meenakshi Academy of Higher Education and Research, Chennai, India., Ramanathan G; Department of Biomedical Science, School of Biosciences and Technology, Vellore Institute of Technology, Vellore, India., Eswaramoorthy R; Department of Prosthodontics, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Chennai, India., Ramasamy M; Department of Biotechnology, Sri Ramachandra Institute of Higher Education and Research (DU), Chennai, India.
Publikováno v:
Journal of biomolecular structure & dynamics [J Biomol Struct Dyn] 2024 May; Vol. 42 (8), pp. 4121-4132. Date of Electronic Publication: 2023 May 31.
Autor:
Bocchi, Maria Beatrice1,2 (AUTHOR) mariabeatrice.bocchi01@icatt.it, Giuli, Cristina1,2 (AUTHOR) francesco.farine@gmail.com, Farine, Francesco1,2 (AUTHOR) martellini0897@gmail.com, Ravaioli, Camilla1,2 (AUTHOR) osvaldo.palmacci@policlinicogemelli.it, Martellini, Sara1,2 (AUTHOR), Farsetti, Pasquale3 (AUTHOR) farsetti@uniroma2.it, Palmacci, Osvaldo1 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. May2024, Vol. 13 Issue 9, p2522. 10p.
Autor:
Plínio O. Holanda, Luciana C. Morais, Felipe O. Marques, Danielle C. Soares, Joao M. R. Neto, Keyth W. B Silva
Publikováno v:
Saudi Journal of Anaesthesia, Vol 18, Iss 4, Pp 562-564 (2024)
Pycnodysostosis is a very rare autosomal recessive disease. This disorder presents with osteosclerosis, leading to fragile bones, short stature, craniofacial abnormalities, laryngomalacia, sleep apnea syndrome, and many other findings. Difficulty int
Externí odkaz:
https://doaj.org/article/94ac95c29bb44d11b604b3898862d715
Autor:
Shanmugapriya, Sundar Raj1 brightsmilesever@gmail.com, Priya, Sairam Sugantha1, Priya, Mohankumar Saravana2, Selvam, Alagarsamy3, Anupriya, Mahalingam4
Publikováno v:
Journal of Pharmacy & Bioallied Sciences. 2024 Supplement, Vol. 16, preceding pS1892-S1897. 6p.
Autor:
Moroni A; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: alice.moroni@ior.it., Brizola E; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: evelise.brizola@ior.it., Di Cecco A; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: alessia.dicecco@ior.it., Tremosini M; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: morena.tremosini@ior.it., Sergiampietri M; Maxillo Facial Surgery Unit, CHIRMED Department, University of Catania, AOU Policlinico San Marco, Catania, Italy. Electronic address: m.sergiampietri@policlinico.unict.it., Bianchi A; Maxillo Facial Surgery Unit, CHIRMED Department, University of Catania, AOU Policlinico San Marco, Catania, Italy; Department of General Surgery and Medical-Surgical Specialties, University of Catania, 95124 Catania, Italy. Electronic address: alberto.bianchi@unict.it., Tappino B; LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy. Electronic address: barbaratappino@gaslini.org., Piana M; U.O.C. Anatomia Patologica II, Dipartimento di Diagnostica delle Immagini e di Laboratorio, A.O.U. Policlinico - San Marco, Catania, Italy. Electronic address: maria.piana@virgilio.it., Gnoli M; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: maria.gnoli@ior.it.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104904. Date of Electronic Publication: 2023 Dec 22.
Autor:
Persiani P; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Piazzale A. Moro, 3, 00185 Rome, Italy., Martini L; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Piazzale A. Moro, 3, 00185 Rome, Italy., Calogero V; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Piazzale A. Moro, 3, 00185 Rome, Italy. Electronic address: valeria.calogero@uniroma1.it., Formica VM; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Piazzale A. Moro, 3, 00185 Rome, Italy., Giannini E; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Piazzale A. Moro, 3, 00185 Rome, Italy., Speziale Varsamis T; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Piazzale A. Moro, 3, 00185 Rome, Italy., Celli M; Department of Pediatrics, 'Sapienza' University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy., Zambrano A; Department of Pediatrics, 'Sapienza' University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy., De Meo D; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Piazzale A. Moro, 3, 00185 Rome, Italy., Villani C; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Piazzale A. Moro, 3, 00185 Rome, Italy.
Publikováno v:
Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association [J Orthop Sci] 2023 Nov; Vol. 28 (6), pp. 1412-1417. Date of Electronic Publication: 2021 May 31.
Autor:
Sharma A; Orthopaedics, All India Institute of Medical Sciences, New Delhi, Delhi, India., Mittal S; Orthopaedics, All India Institute of Medical Sciences, New Delhi, Delhi, India., Trikha V; Orthopaedics, All India Institute of Medical Sciences, New Delhi, Delhi, India., Vatsya P; Orthopedic Surgery, Indraprastha Apollo Hospital, New Delhi, India Pulakvatsya7@gmail.com.
Publikováno v:
BMJ case reports [BMJ Case Rep] 2023 Sep 18; Vol. 16 (9). Date of Electronic Publication: 2023 Sep 18.
Autor:
Sousa M; Rheumatology Unit, Hospitais da Universidade de Coimbra, Centro Hospitalar e Universitário de Coimbra, Praceta Professor Mota Pinto, 3004-561 Coimbra, Portugal. Electronic address: marlene.spsousa91@gmail.com., Prata AR; Rheumatology Unit, Hospitais da Universidade de Coimbra, Centro Hospitalar e Universitário de Coimbra, Praceta Professor Mota Pinto, 3004-561 Coimbra, Portugal., Maduro AI; Rheumatology Unit, Hospitais da Universidade de Coimbra, Centro Hospitalar e Universitário de Coimbra, Praceta Professor Mota Pinto, 3004-561 Coimbra, Portugal., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Avenida Afonso Romão, 3000-602 Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Malcata A; Rheumatology Unit, Hospitais da Universidade de Coimbra, Centro Hospitalar e Universitário de Coimbra, Praceta Professor Mota Pinto, 3004-561 Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Publikováno v:
Joint bone spine [Joint Bone Spine] 2023 Jul; Vol. 90 (4), pp. 105547. Date of Electronic Publication: 2023 Feb 15.
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