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LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity. [electronic resource] by
- Tajan, Mylène
- Batut, Aurélie
- Cadoudal, Thomas
- Deleruyelle, Simon
- Le Gonidec, Sophie
- Saint Laurent, Céline
- Vomscheid, Maëlle
- Wanecq, Estelle
- Tréguer, Karine
- De Rocca Serra-Nédélec, Audrey
- Vinel, Claire
- Marques, Marie-Adeline
- Pozzo, Joffrey
- Kunduzova, Oksana
- Salles, Jean-Pierre
- Tauber, Maithé
- Raynal, Patrick
- Cavé, Hélène
- Edouard, Thomas
- Valet, Philippe
- Yart, Armelle
Producer: 20150424
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 111
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184.
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185.
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Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. [electronic resource] by
- Kleefstra, Tjitske
- Wortmann, Saskia B
- Rodenburg, Richard J T
- Bongers, Ernie M H F
- Hadzsiev, Kinga
- Noordam, Cees
- van den Heuvel, Lambert P
- Nillesen, Willy M
- Hollody, Katalin
- Gillessen-Kaesbach, Gabrielle
- Lammens, Martin
- Smeitink, Jan A M
- van der Burgt, Ineke
- Morava, Eva
Producer: 20110504
In:
European journal of human genetics : EJHG vol. 19
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186.
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Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients. [electronic resource] by
- Levin, Mark D
- Saitta, Sulagna C
- Gripp, Karen W
- Wenger, Tara L
- Ganesh, Jaya
- Kalish, Jennifer M
- Epstein, Michael R
- Smith, Rosemarie
- Czosek, Richard J
- Ware, Stephanie M
- Goldenberg, Paula
- Myers, Angela
- Chatfield, Kathryn C
- Gillespie, Matthew J
- Zackai, Elaine H
- Lin, Angela E
Producer: 20190823
In:
American journal of medical genetics. Part A vol. 176
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188.
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Visual function in Noonan and LEOPARD syndrome. [electronic resource] by
- Alfieri, P
- Cesarini, L
- Zampino, G
- Pantaleoni, F
- Selicorni, A
- Salerni, A
- Vasta, I
- Cerutti, M
- Dickmann, A
- Colitto, F
- Staccioli, S
- Leoni, C
- Ricci, D
- Brogna, C
- Tartaglia, M
- Mercuri, E
Producer: 20090813
In:
Neuropediatrics vol. 39
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Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening? [electronic resource] by
- Bardi, Francesca
- Bosschieter, Pien
- Verheij, Joke
- Go, Attie
- Haak, Monique
- Bekker, Mireille
- Sikkel, Esther
- Coumans, Audrey
- Pajkrt, Eva
- Bilardo, Caterina
Producer: 20210208
In:
Prenatal diagnosis vol. 40
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191.
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High-purity enrichment of functional cardiovascular cells from human iPS cells. [electronic resource] by
- Lin, Bo
- Kim, Jong
- Li, Yanxin
- Pan, Haiying
- Carvajal-Vergara, Xonia
- Salama, Guy
- Cheng, Tao
- Li, Yong
- Lo, Cecilia W
- Yang, Lei
Producer: 20121204
In:
Cardiovascular research vol. 95
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194.
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Deletion of Ptpn11 (Shp2) in cardiomyocytes causes dilated cardiomyopathy via effects on the extracellular signal-regulated kinase/mitogen-activated protein kinase and RhoA signaling pathways. [electronic resource] by
- Kontaridis, Maria I
- Yang, Wentian
- Bence, Kendra K
- Cullen, Darragh
- Wang, Bo
- Bodyak, Natalya
- Ke, Qingen
- Hinek, Aleksander
- Kang, Peter M
- Liao, Ronglih
- Neel, Benjamin G
Producer: 20080403
In:
Circulation vol. 117
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Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. [electronic resource] by
- Edouard, Thomas
- Combier, Jean-Philippe
- Nédélec, Audrey
- Bel-Vialar, Sophie
- Métrich, Mélanie
- Conte-Auriol, Francoise
- Lyonnet, Stanislas
- Parfait, Béatrice
- Tauber, Maithé
- Salles, Jean-Pierre
- Lezoualc'h, Frank
- Yart, Armelle
- Raynal, Patrick
Producer: 20100602
In:
Molecular and cellular biology vol. 30
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198.
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Clinical and molecular analysis of RASopathies in a group of Turkish patients. [electronic resource] by
- Şimşek-Kiper, P Ö
- Alanay, Y
- Gülhan, B
- Lissewski, C
- Türkyilmaz, D
- Alehan, D
- Cetin, M
- Utine, G E
- Zenker, M
- Boduroğlu, K
Producer: 20130805
In:
Clinical genetics vol. 83
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[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. [electronic resource] by
- Carcavilla, Atilano
- García-Miñaúr, Sixto
- Pérez-Aytés, Antonio
- Vendrell, Teresa
- Pinto, Isabel
- Guillén-Navarro, Encarna
- González-Meneses, Antonio
- Aoki, Yoko
- Grinberg, Daniel
- Ezquieta, Begoña
Producer: 20150910
In:
Medicina clinica vol. 144
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