Zobrazeno 1 - 10
of 9 261
pro vyhledávání: '"Achondroplasia"'
Autor:
Lyulcheva-Bennett E; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, L8 7SS, UK. katya.bennett@lwh.nhs.uk.; Faculty of Health and Life Sciences, University of Liverpool, Liverpool, L69 7ZB, UK. katya.bennett@lwh.nhs.uk., Kershaw C; North West Genomic Laboratory Hub, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK., Baker E; North West Genomic Laboratory Hub, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK., Gillies S; North West Genomic Laboratory Hub, Liverpool Women's Hospital, Liverpool, L8 7SS, UK., McCarthy E; North West Genomic Laboratory Hub, Liverpool Women's Hospital, Liverpool, L8 7SS, UK., Higgs J; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, L8 7SS, UK., Canham N; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, L8 7SS, UK., Hennigan D; Department of Neurosurgery, Alder Hey Children's NHS Foundation Trust, Liverpool, L14 5AB, UK., Parks C; Department of Neurosurgery, Alder Hey Children's NHS Foundation Trust, Liverpool, L14 5AB, UK., Bennett D; Faculty of Health and Life Sciences, University of Liverpool, Liverpool, L69 7ZB, UK. daimark.bennett@manchester.ac.uk.; Faculty of Biology, Medicine and Health, University of Manchester, Michael Smith Building, Manchester, M13 9PT, UK. daimark.bennett@manchester.ac.uk.
Publikováno v:
BMC medical genomics [BMC Med Genomics] 2024 Sep 06; Vol. 17 (1), pp. 226. Date of Electronic Publication: 2024 Sep 06.
Autor:
Soğukpınar M; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. merveguvenoglublk@gmail.com., Demir GÜ; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Gönç EN; Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Özön ZA; Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Şimşek-Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Publikováno v:
European journal of pediatrics [Eur J Pediatr] 2024 Sep; Vol. 183 (9), pp. 3819-3829. Date of Electronic Publication: 2024 Jun 15.
Autor:
Saitou H; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kanno J; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan., Mochizuki H; Division of Endocrinology and Metabolism, Saitama Children's Medical Center, Saitama, Japan., Michigami T; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Izumi, Japan., Hasegawa K; Department of Pediatrics, Okayama University Hospital, Okayama, Japan., Fujiwara I; Department of Pediatrics, Sendai City Hospital, Sendai, Japan., Hamajima T; Department of Endocrinology and Metabolism, Aichi Children's Health and Medical Center, Aichi, Japan., Harada D; Department of Pediatrics, Osaka Hospital, Japan Community of Health Care Organization (JCHO), Osaka, Japan., Seki Y; Department of Pediatrics, Kagoshima University School of Medicine, Kagoshima, Japan., Nagasaki K; Department of Pediatrics, Niigata University Medical & Dental Hospital, Niigata, Japan., Dateki S; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Namba N; Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Tottori, Japan., Tokuoka H; BioMarin Pharmaceutical Japan K.K., Tokyo, Japan., Pimenta JM; BioMarin (U.K.) Limited, London, UK., Cohen S; BioMarin (U.K.) Limited, London, UK., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63612. Date of Electronic Publication: 2024 Mar 30.
Autor:
Demuynck B; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Université de Paris Cité, Imagine Institute, Paris, France., Flipo J; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Université de Paris Cité, Imagine Institute, Paris, France., Kaci N; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Université de Paris Cité, Imagine Institute, Paris, France., Dambkowski C; QED Therapeutics, San Francisco, CA 94107, United States., Paull M; QED Therapeutics, San Francisco, CA 94107, United States., Muslimova E; QED Therapeutics, San Francisco, CA 94107, United States., Shah BP; QED Therapeutics, San Francisco, CA 94107, United States., Legeai-Mallet L; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Université de Paris Cité, Imagine Institute, Paris, France.
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2024 Jul 23; Vol. 39 (6), pp. 765-774.
Autor:
Fredwall S; Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesodden, Norway. svfred@sunnaas.no., AlSayed M; Department of Medical Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia., Ben-Omran T; Division of Genetics and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar., Boero S; Istituto Giannina Gaslini, Genoa, Italy., Cormier-Daire V; Paris Descartes University, Paris, France., Fauroux B; Necker University Hospital and Paris Cité University, Paris, France., Guillén-Navarro E; Medical Genetics Division and Pediatrics Department, Virgen de la Arrixaca University Hospital, IMIB-Pascual Parrilla, University of Murcia, Murcia, Spain.; CIBERER-ISCIII, Madrid, Spain., Innig F; BKMF e.V., Leinestraße 2, 28199, Bremen, Germany., Kunkel P; University Medical Centre Mannheim, Mannheim, Germany., Lampe C; Clinic of Child and Youth Medicine, University Hospital Mannheim, Mannheim, Germany., Maghnie M; Paediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147, Genoa, Italy., Mohnike K; Children's Hospital, Otto-von-Guericke-University, Magdeburg, Germany., Mortier G; Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Pejin Z; Hôpital Necker, Paris, France., Sessa M; Italian Association on Achondroplasia, Milan, Italy., Sousa SB; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; ERN-BOND, Bologna, Italy., Irving M; Guy's and St Thomas' NHS Foundation Trust, London, UK.
Publikováno v:
Advances in therapy [Adv Ther] 2024 Jul; Vol. 41 (7), pp. 2545-2558. Date of Electronic Publication: 2024 May 15.
Autor:
Galassi FM; Department of Anthropology, Faculty of Biology and Environmental Protection, University of Lodz, Łódź 90-237, Poland. Electronic address: francesco.galassi@biol.uni.lodz.pl., Landini L; FAPAB Research Center, Avola SR, Sicily, Italy., Killgrove K; Ronin Institute, Montclair, NJ, USA., Artico M; Department of Sensory Organs, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy., Rossi L; Museo dell'Ecologia, Cesena, Emilia-Romagna, Italy., Papa V; FAPAB Research Center, Avola SR, Sicily, Italy; Department of Economics, Law, Cybersecurity, and Sports Sciences & School of Science, Engineering and Health, University of Naples 'Parthenope', Naples, Italy., Varotto E; Archaeology, College of Humanities, Arts and Social Sciences, Flinders University, Adelaide 5001, SA, Australia; Department of Cultures and Societies, University of Palermo, Palermo, Italy. Electronic address: elena.varotto@unipa.it.
Publikováno v:
The lancet. Diabetes & endocrinology [Lancet Diabetes Endocrinol] 2024 Sep; Vol. 12 (9), pp. 611-612. Date of Electronic Publication: 2024 Jul 15.
Autor:
Craven C; Neurosurgery, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK claudia.craven@gmail.com., Jankovic I; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Dyson E; Department of Neurosurgery, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Boyd SG; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., D'Arco F; Paediatric Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Cheung MS; Department of Paediatric Endocrinology, Evelina London Children's Hospital, London, UK., Thompson D; Department of Paediatric Neurosurgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publikováno v:
Archives of disease in childhood [Arch Dis Child] 2024 Aug 16; Vol. 109 (9), pp. 755-758. Date of Electronic Publication: 2024 Aug 16.
Autor:
Hariharan AR; Paley Orthopedic & Spine Institute, 901 45th Street,West Palm Beach, FL., Nugraha HK, Huser AJ, Feldman DS
Publikováno v:
Journal of pediatric orthopedics [J Pediatr Orthop] 2024 Aug 01; Vol. 44 (7), pp. 448-455. Date of Electronic Publication: 2024 Apr 09.
Autor:
Savarirayan R; Murdoch Children's Research Institute and University of Melbourne, Parkville, Victoria, Australia. ravi.savarirayan@mcri.edu.au.
Publikováno v:
Nature reviews. Endocrinology [Nat Rev Endocrinol] 2024 Aug; Vol. 20 (8), pp. 443-444.
Autor:
Ozono K; Center for Promoting Treatment of Intractable Diseases, Iseikai International General Hospital, Osaka 530-0052, Japan.; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan., Michigami T; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Osaka 594-1101, Japan.
Publikováno v:
Endocrine journal [Endocr J] 2024 Jul 12; Vol. 71 (7), pp. 643-650. Date of Electronic Publication: 2024 Apr 04.