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103.
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Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene. [electronic resource] by
- Li, Rong
- Baskfield, Amanda
- Lin, Yongshun
- Beers, Jeanette
- Zou, Jizhong
- Liu, Chengyu
- Jaffré, Fabrice
- Roberts, Amy E
- Ottinger, Elizabeth A
- Kontaridis, Maria I
- Zheng, Wei
Producer: 20190806
In:
Stem cell research vol. 34
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104.
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105.
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Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. [electronic resource] by
- Oishi, Kimihiko
- Zhang, Hui
- Gault, William J
- Wang, Cindy J
- Tan, Cheryl C
- Kim, In-Kyong
- Ying, Huiwen
- Rahman, Tabassum
- Pica, Natalie
- Tartaglia, Marco
- Mlodzik, Marek
- Gelb, Bruce D
Producer: 20090130
In:
Human molecular genetics vol. 18
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106.
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107.
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A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes. [electronic resource] by
- Cerrato, Fabiana
- Pacileo, Giuseppe
- Limongelli, Giuseppe
- Gagliardi, Maria Giulia
- Santoro, Giuseppe
- Digilio, Maria Cristina
- Di Salvo, Giovanni
- Ardorisio, Rachele
- Miele, Tiziana
- Calabrò, Raffaele
Producer: 20090526
In:
Cardiology in the young vol. 18
Availability: No items available.
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108.
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[Progressive cardiomyopathy by the LEOPARD syndrome]. [electronic resource] by
- Rizun, L I
- Voronina, T S
- Frolova, Iu V
- Raskin, V V
- Rumiantseva, V A
- Zakliaz'minskaia, E V
- Bukaeva, A A
- Van, E Iu
- Khovrin, V V
- Fedorov, D N
- Daabul', A S
- Dzemeshkevich, S L
Producer: 20130215
In:
Khirurgiia no. 12
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109.
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110.
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LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. [electronic resource] by
- Santoro, Claudia
- Pacileo, Giuseppe
- Limongelli, Giuseppe
- Scianguetta, Saverio
- Giugliano, Teresa
- Piluso, Giulio
- Ragione, Fulvio Della
- Cirillo, Mario
- Mirone, Giuseppe
- Perrotta, Silverio
Producer: 20140804
In:
BMC medical genetics vol. 15
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Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). [electronic resource] by
- Qiu, Wei
- Wang, Xiaonan
- Romanov, Vladimir
- Hutchinson, Ashley
- Lin, Andrés
- Ruzanov, Maxim
- Battaile, Kevin P
- Pai, Emil F
- Neel, Benjamin G
- Chirgadze, Nickolay Y
Producer: 20140929
In:
BMC structural biology vol. 14
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119.
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Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. [electronic resource] by
- Conboy, Erin
- Dhamija, Radhika
- Wang, Margaret
- Xie, Jing
- Dyck, P James
- Bridges, Alina G
- Spinner, Robert J
- Clayton, Amy C
- Watson, Robert E
- Messiaen, Ludwine
- Babovic-Vuksanovic, Dusica
Producer: 20161102
In:
Journal of medical genetics vol. 53
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