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Author/Creator Shirakawa, Toshihiko

2. MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT. (3rd May 2022)

Authors:
Münch, Johannes; Engesser, Marie; Schönauer, Ria; Hamm, J Austin; Akay, Gulsen; Tüysüz, Beyhan; Shirakawa, Toshihiko; Dateki, Sumito; Claus, Laura; van Eerde, Albertien M; Wagner, Timo; Bergmann, Carsten; Buchan, Jillian; Wegner, Tara; Posey, Jennifer; Lupski, James R; Petit, Florence; Mccarthy, ...
Journal:
Nephrology dialysis transplantation
Issue:
Volume 37(2022)Supplement 3
Page Start:
Record Type:
Journal Article
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3. Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions. Issue 2 (18th November 2022)

Authors:
Harrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadège; Spitz, Marie Aude; Warde, Marie‐Thérèse Abi; Schaefer, Elise; Kittke, Volker M.Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama,...
Journal:
Annals of neurology
Issue:
Volume 93:Issue 2(2023)
Page Start:
330
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗