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Publication : orphanet journal of rare diseases Publisher : springer nature Subject : children Subject : lung diseases

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Moebius sequence –a multidisciplinary clinical approach

Authors : John R. Østergaard; Thomas Klit Pedersen; Bjarne Møller-Madsen

Subjects: Male; Pediatrics; medicine.medical_specialty

Source: Pedersen, L K, Maimburg, R D, Hertz, J M, Gjørup, H, Pedersen, T K, Møller-Madsen, B & Østergaard, J R 2017, ' Moebius sequence-a multidisciplinary clinical approach ',

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Identification and characterisation of eight novel SERPINA1 Null mutations

Authors : Kevin Molloy; Daniela Medicina; David R Curran

Subjects: Adult; Male; Chronic bronchitis

Source: Orphanet Journal of Rare Diseases

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Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

Authors : Esther M. Maier; Daniela Karall; Barbara Plecko ...

Subjects: Male; Cardiomyopathy; Gastroenterology

Source: Orphanet Journal of Rare Diseases

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Diagnosis and treatment of congenital abdominal aortic aneurysm: a systematic review of reported cases

Authors : Yuhong Tao; Yamei Wang

Subjects: medicine.medical_specialty; Vascular Malformations; Aortic aneurysms

Source: Orphanet Journal of Rare Diseases

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