Risultati della ricerca - Gen Nishimura

In Memory of Jürgen W. Spranger, MD (1931‐2025) di Andrea Superti‐Furga, Sheila Unger, Gen Nishimura, Christine Hall, Carlos R. Ferreira

Testo

A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years di Kazuhiro Shimura, Machiko Toki, Yuko Tsujioka, Gen Nishimura, Tomohiro Ishii, Tomonobu Hasegawa

Testo

Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology di Line Aagaard Nolting, Tess Holling, Gen Nishimura, Jakob Ek, Mads Bak, Merete Ljungberg, Kerstin Kutsche, Hanne Hove

Testo

RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review di Noboru Uchida, Tomohiro Ishii, Gen Nishimura, Takeshi Sato, Gen Kuratsuji, Keisuke Nagasaki, Yuki Hosokawa, Eriko Adachi, Kei Takasawa, Kenichi Kashimada, Yuko Tsujioka, Tomonobu Hasegawa

Testo

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect di Pernille Axél Gregersen, Anna Hammarsjö, Lise Graversen, Nis Brix, Hillevi Lindelöf, Uffe Birk Jensen, Stense Farholt, Sune Rubak, Jesper Bjerre, Serena G. Piticchio, Thorkild Terkelsen, Gen Nishimura, Michel Bach Hellfritzsch, Giedre Grigelioniene

Testo