未登录The Turkish consensus recommendations on the nephro-urological management of myelomeningocele in children and adolescents土耳其关于儿童和青少年脊髓脊膜膨出的肾-泌尿系统管理共识建议
Onder, Esra Nagehan Akyol; Dogan, Cagla Serpil; Tiryaki, Sibel; Donmez, Muhammet Irfan; Gokceoglu, Arife Uslu; Tayfur, Asli Celebi; Alaygut, Demet; Yilma, Ebru Bekiroglu; Selvi, Imail; Sekrci, Cagri Akin; Cengiz, Nurcan; Gulleroglu, Kaan Savas .png)
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收藏Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis (vol 100, pg 323, 2017)Macia, Maxence S.; Halbritter, Jan; Delous, Marion; Bredrup, Cecilie; Gutter, Arthur; Filhol, Emilie; Mellgren, Anne E. C.; Leh, Sabine; Bizet, Albane; Braun, Daniela A.; Gee, Heon Y.; Silbermann, Flora; Henry, Charline; Krug, Pauline; Bole-Feysot, Christine; Nitschke, Patrick; Joly, Dominique; Nicoud, Philippe; Paget, Andre; Haugland, Heidi; Brackmann, Damien; Ahmet, Nayir; Sandford, Richard; Cengiz, Nurcan; Knappskog, Per M.; Boman, Helge; Linghu, Bolan; Yang, Fan; Oakeley, Edward J.; Saint Mezard, Pierre; Sailer, Andreas W.; Johansson, Stefan; Rodahl, Eyvind; Saunier, Sophie; Hildebrandt, Friedhelm; Benmerah, Alexandre 分享 收藏 Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMacia, Maxence S.; Halbritter, Jan; Delous, Marion; Bredrup, Cecilie; Gutter, Arthur; Filhol, Emilie; Mellgren, Anne E. C.; Leh, Sabine; Bizet, Albane; Braun, Daniela A.; Gee, Heon Y.; Sibermann, Flora; Henry, Charline; Krug, Pauline; Bole-Feysot, Christine; Nitschke, Patrick; Joly, Dominique; Nicoud, Philippe; Paget, Andre; Haugland, Heidi; Brackmann, Damien; Ahmet, Nayir; Sandford, Richard; Cengiz, Nurcan; Knappskog, Per M.; Boman, Helge; Linghu, Bolan; Yang, Fan; Oakeley, Edward J.; Saint Mezard, Pierre; Sailer, Andreas W.; Johansson, Stefan; Rodahl, Eyvind; Saunier, Sophie; Hildebrandt, Friedhelm; Benmerah, Alexandre 分享 收藏 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity全外显子组测序可确定大多数近亲或家族性病例的致病突变，这些病例具有儿童期发病的肾脏回声增加Braun, Daniela A.; Schueler, Markus; Halbritter, Jan; Gee, Heon Yung; Porath, Jonathan D.; Lawson, Jennifer A.; Airik, Rannar; Shril, Shirlee; Allen, Susan J.; Stein, Deborah; Al Kindy, Adila; Beck, Bodo B.; Cengiz, Nurcan; Moorani, Khemchand N.; Ozaltin, Fatih; Hashmi, Seema; Sayer, John A.; Bockenhauer, Detlef; Soliman, Neveen A.; Otto, Edgar A.; Lifton, Richard P.; Hildebrandt, Friedhelm 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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