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Author/Creator Elcioglu, Nursel H

1. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency. Issue 4 (18th March 2021)

Authors:
Tebani, Abdellah; Sudrié-Arnaud, Bénédicte; Dabaj, Ivana; Torre, Stéphanie; Domitille, Laur; Snanoudj, Sarah; Heron, Benedicte; Levade, Thierry; Caillaud, Catherine; Vergnaud, Sabrina; Saugier-Veber, Pascale; Coutant, Sophie; Dranguet, Hélène; Froissart, Roseline; Al Khouri, Majed; Alembik, Yves;...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 4(2022)
Page Start:
377
Record Type:
Journal Article
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2. PAPSS2 mutations cause autosomal recessive brachyolmia. Issue 8 (11th July 2012)

Authors:
Miyake, Noriko; Elcioglu, Nursel H; Iida, Aritoshi; Isguven, Pinar; Dai, Jin; Murakami, Nobuyuki; Takamura, Kazuyuki; Cho, Tae-Joon; Kim, Ok-Hwa; Hasegawa, Tomonobu; Nagai, Toshiro; Ohashi, Hirofumi; Nishimura, Gen; Matsumoto, Naomichi; Ikegawa, Shiro
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 8(2012)
Page Start:
533
Record Type:
Journal Article
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3. TNFRSF11A‐Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum. (5th August 2019)

Authors:
Xue, Jing‐yi; Wang, Zheng; Shinagawa, Satoshi; Ohashi, Hirofumi; Otomo, Nao; Elcioglu, Nursel H; Nakashima, Tomoki; Nishimura, Gen; Ikegawa, Shiro; Guo, Long
Journal:
Journal of bone and mineral research
Issue:
Volume 34:Number 10(2019)
Page Start:
1873
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗