Results
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161.
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Behavioral profile in RASopathies. [electronic resource] by
- Alfieri, Paolo
- Piccini, Giorgia
- Caciolo, Cristina
- Perrino, Francesca
- Gambardella, Maria Luigia
- Mallardi, Maria
- Cesarini, Laura
- Leoni, Chiara
- Leone, Daniela
- Fossati, Chiara
- Selicorni, Angelo
- Digilio, Maria Cristina
- Tartaglia, Marco
- Mercuri, Eugenio
- Zampino, Giuseppe
- Vicari, Stefano
Producer: 20141215
In:
American journal of medical genetics. Part A vol. 164A
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162.
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163.
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164.
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165.
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166.
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Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. [electronic resource] by
- Kalidas, Kamini
- Shaw, Adam C
- Crosby, Andrew H
- Newbury-Ecob, Ruth
- Greenhalgh, Lynn
- Temple, Isabel K
- Law, Caroline
- Patel, Amisha
- Patton, Michael A
- Jeffery, Steve
Producer: 20050307
In:
Journal of human genetics vol. 50
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167.
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168.
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169.
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170.
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171.
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Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. [electronic resource] by
- Sarkozy, A
- Conti, E
- Digilio, M Cristina
- Marino, B
- Morini, E
- Pacileo, G
- Wilson, M
- Calabrò, R
- Pizzuti, A
- Dallapiccola, B
Producer: 20040716
In:
Journal of medical genetics vol. 41
Availability: No items available.
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172.
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Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. [electronic resource] by
- Lee, Chung-Lin
- Tan, Louis Tan Hock-Cheong
- Lin, Hsiang-Yu
- Hwu, Wuh-Liang
- Lee, Ni-Chung
- Chien, Yin-Hsiu
- Chuang, Chih-Kuang
- Wu, Mei-Hwan
- Wang, Jou-Kou
- Chu, Shao-Yin
- Lin, Ju-Li
- Lo, Fu-Sung
- Su, Pen-Hua
- Hsu, Chia-Chi
- Ko, Yu-Yuan
- Chen, Ming-Ren
- Chiu, Hui-Ching
- Lin, Shuan-Pei
Producer: 20210111
In:
American journal of medical genetics. Part A vol. 182
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173.
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174.
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Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. [electronic resource] by
- Stewart, Rodney A
- Sanda, Takaomi
- Widlund, Hans R
- Zhu, Shizhen
- Swanson, Kenneth D
- Hurley, Aeron D
- Bentires-Alj, Mohamed
- Fisher, David E
- Kontaridis, Maria I
- Look, A Thomas
- Neel, Benjamin G
Producer: 20100707
In:
Developmental cell vol. 18
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175.
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176.
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177.
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178.
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Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. [electronic resource] by
- Dhandapany, Perundurai S
- Fabris, Frank
- Tonk, Rahul
- Illaste, Ardo
- Karakikes, Ioannis
- Sorourian, Mehran
- Sheng, Jipo
- Hajjar, Roger J
- Tartaglia, Marco
- Sobie, Eric A
- Lebeche, Djamel
- Gelb, Bruce D
Producer: 20110914
In:
Journal of molecular and cellular cardiology vol. 51
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179.
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180.
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. [electronic resource] by
- Pandit, Bhaswati
- Sarkozy, Anna
- Pennacchio, Len A
- Carta, Claudio
- Oishi, Kimihiko
- Martinelli, Simone
- Pogna, Edgar A
- Schackwitz, Wendy
- Ustaszewska, Anna
- Landstrom, Andrew
- Bos, J Martijn
- Ommen, Steve R
- Esposito, Giorgia
- Lepri, Francesca
- Faul, Christian
- Mundel, Peter
- López Siguero, Juan P
- Tenconi, Romano
- Selicorni, Angelo
- Rossi, Cesare
- Mazzanti, Laura
- Torrente, Isabella
- Marino, Bruno
- Digilio, Maria C
- Zampino, Giuseppe
- Ackerman, Michael J
- Dallapiccola, Bruno
- Tartaglia, Marco
- Gelb, Bruce D
Producer: 20070919
In:
Nature genetics vol. 39
Availability: No items available.
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