Results 11 to 20 of about 4,842,469 (101)
, 2022 While medical complications are well described in children with achondroplasia, our scoping review found few studies concerning adults. The Norwegian Adult Achondroplasia Study included 50 Norwegian adults, aged 16–87 years, with genetically confirmed ...
Fredwall, Svein Otto
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Achondroplasia Berulang pada Orangtua dengan Perawakan Normal: Laporan Kasus [PDF]
, 2023 Achondroplasia adalah penyebab paling umum dari perawakan pendek yang tidak proporsional. Individu yang terkena memiliki pemendekan rhizomelia pada anggota badan, makrosefali, dan fitur wajah yang khas.
Pribadi, Adhi, Zahra, Fatima
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Achondroplasia: Update on diagnosis, follow-up and treatment.
, 2022 20.500.12530/87857Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. This review is
Marín Del Barrio, Silvia +10 more
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European atlas of democratic deficit [PDF]
, 2017 The article discusses the implications of Panama Papers on the 2017 general election in Malta.peer ...
Briguglio, Michael +1 more
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Hearing loss in Norwegian adults with achondroplasia
, 2021 Background Achondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy.
Savarirayan, Ravi +14 more
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Flash report from the chair European and Alcohol Health Forum. Plenary meeting of 26 April 2012. [PDF]
, 2012 The 10th Plenary meeting of the European Alcohol and Health Forum (EAHF) took place on 26 April 2012 in Brussels.
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Diagnosis of Achondroplasia at Birth: A Case Report
, 2020 Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead
Suzit Bhusal +6 more
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, 2023 Tato bakalářská práce se věnuje genetickému onemocnění zvaném achondroplázie, historii jeho objevování, genetickému podkladu, klinickým projevům a diagnostice nemoci. V poslední kapitole je uvedeno léčivo pro achondroplázii a další návrhy na léčbu tohoto
Kolisková, Lucie
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Optimal management of complications associated with achondroplasia [PDF]
, 2014 Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact ...
Pacey, Verity +11 more
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Achondroplasia: Etiology, Clinical Presentation, and Management
, 2017 By using a literature review, this article examines the implications of achondroplasia. The following areas are discussed: the clinical definition of the disease; the incidence, etiology, and pathogenesis; phenotypical characteristics and natural history
Daugherty, Allyson, Allyson Daugherty
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