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161.
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Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases. [electronic resource] by
- Teboul-Coré, Stephanie
- Rey-Jouvin, Caroline
- Miquel, Anne
- Vatier, Camille
- Capeau, Jacqueline
- Robert, Jean-Jacques
- Pham, Thao
- Lascols, Olivier
- Berenbaum, Francis
- Laredo, Jean-Denis
- Vigouroux, Corinne
- Sellam, Jérémie
Producer: 20180205
In:
Skeletal radiology vol. 45
Availability: No items available.
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162.
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Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant. [electronic resource] by
- Sánchez-Iglesias, Sofía
- Crocker, Melissa
- O'Callaghan, Mar
- Darling, Alejandra
- García-Cazorla, Angels
- Domingo-Jiménez, Rosario
- Castro, Ana
- Fernández-Pombo, Antía
- Ruibal, Álvaro
- Aguiar, Pablo
- Garrido-Pumar, Miguel
- Rodríguez-Núñez, Antonio
- Álvarez-Escudero, Julián
- Brown, Rebecca J
- Araújo-Vilar, David
Producer: 20200106
In:
Neurogenetics vol. 20
Availability: No items available.
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163.
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Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency. [electronic resource] by
- Salle-Teyssières, Laurence
- Auclair, Martine
- Terro, Faraj
- Nemani, Mona
- Elsayed, Solaf M
- Elsobky, Ezzat
- Lathrop, Mark
- Délépine, Marc
- Lascols, Olivier
- Capeau, Jacqueline
- Magré, Jocelyne
- Vigouroux, Corinne
Producer: 20170705
In:
The Journal of clinical endocrinology and metabolism vol. 101
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164.
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Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy. [electronic resource] by
- Xie, Bobo
- Fan, Xin
- Lei, Yaqin
- Yi, Shang
- Yang, Qi
- Wang, Jin
- Qin, Zailong
- Shen, Fei
- Luo, Jingsi
- Shen, Yiping
Producer: 20210208
In:
Molecular medicine reports vol. 21
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165.
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166.
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167.
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168.
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Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations. [electronic resource] by
- Mori, Eisaku
- Fujikura, Junji
- Noguchi, Michio
- Nakao, Kazuhiro
- Matsubara, Masaki
- Sone, Masakatsu
- Taura, Daisuke
- Kusakabe, Toru
- Ebihara, Ken
- Tanaka, Takayuki
- Hosoda, Kiminori
- Takahashi, Kazutoshi
- Asaka, Isao
- Inagaki, Nobuya
- Nakao, Kazuwa
Producer: 20160725
In:
Metabolism: clinical and experimental vol. 65
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169.
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171.
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A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. [electronic resource] by
- Fukaishi, Takahiro
- Minami, Isao
- Masuda, Seizaburo
- Miyachi, Yasutaka
- Tsujimoto, Kazutaka
- Izumiyama, Hajime
- Hashimoto, Koshi
- Yoshida, Masayuki
- Takahashi, Sayako
- Kashimada, Kenichi
- Morio, Tomohiro
- Kosaki, Kenjiro
- Maezawa, Yoshiro
- Yokote, Koutaro
- Yoshimoto, Takanobu
- Yamada, Tetsuya
Producer: 20201207
In:
Endocrine journal vol. 67
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173.
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Adipose tissue transplantation ameliorates lipodystrophy-associated metabolic disorders in seipin-deficient mice. [electronic resource] by
- Wang, Huan
- Xu, Peng-Fei
- Li, Jing-Yi
- Liu, Xue-Jing
- Wu, Xiao-Yue
- Xu, Fang
- Xie, Bei-Chen
- Huang, Xiao-Min
- Zhou, Zi-Hao
- Kayoumu, Abudurexiti
- Liu, George
- Huang, Wei
Producer: 20191121
In:
American journal of physiology. Endocrinology and metabolism vol. 316
Availability: No items available.
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