نتایج جستجو برای: berardinelli
تعداد نتایج: 127 فیلتر نتایج به سال:
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S mutation in 90 patients of 1 large Austrian family and two unrelated German families. Variation in the clinical and electrophysiological phenotype ...
A 6-year-old boy presented with abnormal habitus since birth, delayed language development, history of frequent falls since 9 months, and fever since 1 week. He was found to have hyperandrogenic features, generalized paucity of fat, generalized muscular overdevelopment, and brownish pigmentation over the flexural creases. Skin biopsy demonstrated features suggestive of acanthosis nigricans with...
Anna Pichiecchio, MD1 Angela Berardinelli, MD2 Maurizio Moggio, MD, PhD3 Marta Rossi, MD4 Umberto Balottin, MD, PhD4 Giacomo Pietro Comi, MD, PhD3 Stefano Bastianello, MD, PhD1,2,3,4,5 1 Neuroradiology Department, C. Mondino National Neurological Institute, Pavia, Italy 2 Child Neuropsychiatry Unit, Regional Referral Centre for Neuromuscular Disease in Childhood, C. Mondino National Neurologica...
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