Results
|
|
121.
|
|
|
|
122.
|
|
|
|
123.
|
|
|
|
124.
|
|
|
|
125.
|
|
|
|
126.
|
|
|
|
127.
|
|
|
|
128.
|
|
|
|
129.
|
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. [electronic resource] by
- Keren, B
- Hadchouel, A
- Saba, S
- Sznajer, Y
- Bonneau, D
- Leheup, B
- Boute, O
- Gaillard, D
- Lacombe, D
- Layet, V
- Marlin, S
- Mortier, G
- Toutain, A
- Beylot, C
- Baumann, C
- Verloes, A
- Cavé, H
Producer: 20050414
In:
Journal of medical genetics vol. 41
Availability: No items available.
|
|
|
130.
|
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. [electronic resource] by
- Marin, Talita M
- Keith, Kimberly
- Davies, Benjamin
- Conner, David A
- Guha, Prajna
- Kalaitzidis, Demetrios
- Wu, Xue
- Lauriol, Jessica
- Wang, Bo
- Bauer, Michael
- Bronson, Roderick
- Franchini, Kleber G
- Neel, Benjamin G
- Kontaridis, Maria I
Producer: 20110427
In:
The Journal of clinical investigation vol. 121
Availability: No items available.
|
|
|
131.
|
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations. [electronic resource] by
- Digilio, M Cristina
- Pacileo, Giuseppe
- Sarkozy, Anna
- Limongelli, Giuseppe
- Conti, Emanuela
- Cerrato, Fabiana
- Marino, Bruno
- Pizzuti, Antonio
- Calabrò, Raffaele
- Dallapiccola, Bruno
Producer: 20041015
In:
Birth defects research. Part A, Clinical and molecular teratology vol. 70
Availability: No items available.
|
|
|
132.
|
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. [electronic resource] by
- Martinelli, Simone
- Torreri, Paola
- Tinti, Michele
- Stella, Lorenzo
- Bocchinfuso, Gianfranco
- Flex, Elisabetta
- Grottesi, Alessandro
- Ceccarini, Marina
- Palleschi, Antonio
- Cesareni, Gianni
- Castagnoli, Luisa
- Petrucci, Tamara C
- Gelb, Bruce D
- Tartaglia, Marco
Producer: 20080723
In:
Human molecular genetics vol. 17
Availability: No items available.
|
|
|
133.
|
|
|
|
134.
|
|
|
|
135.
|
Sequence variation in [electronic resource] by
- Falik-Zaccai, Tzipora C
- Barsheshet, Yiftah
- Mandel, Hanna
- Segev, Meital
- Lorber, Avraham
- Gelberg, Shachaf
- Kalfon, Limor
- Ben Haroush, Shani
- Shalata, Adel
- Gelernter-Yaniv, Liat
- Chaim, Sarah
- Raviv Shay, Dorith
- Khayat, Morad
- Werbner, Michal
- Levi, Inbar
- Shoval, Yishay
- Tal, Galit
- Shalev, Stavit
- Reuveni, Eli
- Avitan-Hersh, Emily
- Vlodavsky, Eugene
- Appl-Sarid, Liat
- Goldsher, Dorit
- Bergman, Reuven
- Segal, Zvi
- Bitterman-Deutsch, Ora
- Avni, Orly
Producer: 20171004
In:
EMBO molecular medicine vol. 9
Availability: No items available.
|
|
|
136.
|
|
|
|
137.
|
|
|
|
138.
|
|
|
|
139.
|
PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice. [electronic resource] by
- Paardekooper Overman, Jeroen
- Yi, Jae-Sung
- Bonetti, Monica
- Soulsby, Matthew
- Preisinger, Christian
- Stokes, Matthew P
- Hui, Li
- Silva, Jeffrey C
- Overvoorde, John
- Giansanti, Piero
- Heck, Albert J R
- Kontaridis, Maria I
- den Hertog, Jeroen
- Bennett, Anton M
Producer: 20140902
In:
Molecular and cellular biology vol. 34
Availability: No items available.
|
|
|
140.
|
|