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机译:脊柱肌肉萎缩与呼吸窘迫类型1:多中心回顾性研究
Univ Toulouse Childrens Hosp Dept Neuropediat TSA 330 Great Britain Ave F-70034 Toulouse;
Univ Hosp Toulouse Fac Med Epidemiol Dept 37 Allees Jules Guesde F-31073 Toulouse France;
Univ Hosp Toulouse Neurol Dept TSA 330 Great Britain Ave F-70034 Toulouse France;
Univ Hosp Lyon Woman Mother Child Hosp Dept Neuropediat 59 Blvd Pinel F-69677 Bron France;
Brest Reg Univ Hosp Dept Pediat Div Pediat Neurol 2 Ave Foch F-29200 Brest France;
Necker Enfants Malades Hosp Dept Neuropediat 149 Rue Sevres F-75743 Paris 15 France;
Raymond Poincare Univ Hosp UVSQ AP HP Garches Neuromuscular Reference Ctr GNMH Garches France;
Rouen Univ Hosp Rehabil Ctr Dept Neonatal Pediat &
Intens Car Neuropediat Rouen France;
Univ Hosp Rennes Unit Med Genet 16 Blvd Bulgarie F-35203 Rennes 2 France;
UPMC Univ Paris 06 GRC ConCerLD F-75012 Paris France;
Univ Hosp Caen Pediat Intens Care Dept Ave Cote De Nacre F-14033 Caen France;
Univ Hosp Amiens Unit Med Genet Site Sud F-80054 Amiens 1 France;
Grenoble Alpes Univ Hosp Unit Med Genet F-38700 La Tronche France;
CHU Lille Clin Genet Guy Fontaine F-59000 Lille France;
Univ Hosp Limoges Unit Med Genet 2 Ave Martin Luther King F-87000 Limoges France;
Univ Hosp Nice LArchet 2 Hosp Unit Med Genet 151 Route St Antoine Ginestiere BP 3079 F-06202;
Robert Debre Univ Hosp Dept Neuropediat 48 Bd Serurier F-75019 Paris France;
Robert Debre Univ Hosp Unit Med Genet 48 Bd Serurier F-75019 Paris France;
Necker Enfants Malades Hosp Unit Med Genet 149 Rue Sevres F-75743 Paris 15 France;
Necker Enfants Malades Hosp Unit Med Genet 149 Rue Sevres F-75743 Paris 15 France;
Hosp Univ Toulouse TSA Unit Med Genet 330 Great Britain Ave F-70034 Toulouse France;
Univ Toulouse Childrens Hosp Dept Neuropediat TSA 330 Great Britain Ave F-70034 Toulouse;
SMARD1; DSMA1; Multicenter; Prognosis; IGHMBP2; Heterogeneity;
机译:脊柱肌肉萎缩与呼吸窘迫类型1:多中心回顾性研究
机译:以色列孤立人群中脊髓性肌萎缩症和呼吸窘迫1型脊髓性肌萎缩症的遗传携带者筛查
机译:以色列孤立人群中脊髓性肌萎缩症和呼吸窘迫1型脊髓性肌萎缩症的遗传携带者筛查
机译:卷积神经网络评价Ⅰ型脊髓性肌萎缩症的婴儿
机译:糖基-tRNA合成酶突变导致2D型Charcot-Marie-Tooth病和V型远端脊髓性肌萎缩症:人类周围神经病的潜在新型疾病机制。
机译:脊髓性肌萎缩伴呼吸窘迫1型:临床表型分子发病机制和治疗见解。
机译:对血清感应的RPFF蛋白的结构研究和呼吸窘迫型脊柱肌萎缩的IGHMBP2蛋白