Results
|
|
141.
|
|
|
|
142.
|
|
|
|
143.
|
|
|
|
144.
|
|
|
|
145.
|
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. [electronic resource] by
- Sarkozy, Anna
- Carta, Claudio
- Moretti, Sonia
- Zampino, Giuseppe
- Digilio, Maria C
- Pantaleoni, Francesca
- Scioletti, Anna Paola
- Esposito, Giorgia
- Cordeddu, Viviana
- Lepri, Francesca
- Petrangeli, Valentina
- Dentici, Maria L
- Mancini, Grazia M S
- Selicorni, Angelo
- Rossi, Cesare
- Mazzanti, Laura
- Marino, Bruno
- Ferrero, Giovanni B
- Silengo, Margherita Cirillo
- Memo, Luigi
- Stanzial, Franco
- Faravelli, Francesca
- Stuppia, Liborio
- Puxeddu, Efisio
- Gelb, Bruce D
- Dallapiccola, Bruno
- Tartaglia, Marco
Producer: 20090706
In:
Human mutation vol. 30
Availability: No items available.
|
|
|
146.
|
|
|
|
147.
|
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade. [electronic resource] by
- Alfieri, Paolo
- Cesarini, Laura
- Mallardi, Maria
- Piccini, Giorgia
- Caciolo, Cristina
- Leoni, Chiara
- Mirante, Nadia
- Pantaleoni, Francesca
- Digilio, Maria Cristina
- Gambardella, Maria Luigia
- Tartaglia, Marco
- Vicari, Stefano
- Mercuri, Eugenio
- Zampino, Giuseppe
Producer: 20111215
In:
Behavior genetics vol. 41
Availability: No items available.
|
|
|
148.
|
|
|
|
149.
|
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. [electronic resource] by
- Tartaglia, Marco
- Martinelli, Simone
- Stella, Lorenzo
- Bocchinfuso, Gianfranco
- Flex, Elisabetta
- Cordeddu, Viviana
- Zampino, Giuseppe
- Burgt, Ineke van der
- Palleschi, Antonio
- Petrucci, Tamara C
- Sorcini, Mariella
- Schoch, Claudia
- Foa, Robin
- Emanuel, Peter D
- Gelb, Bruce D
Producer: 20071106
In:
American journal of human genetics vol. 78
Availability: No items available.
|
|
|
150.
|
|
|
|
151.
|
|
|
|
152.
|
mTOR pathway in human cardiac hypertrophy caused by LEOPARD syndrome: a different role compared with animal models? [electronic resource] by
- Cui, Hao
- Song, Lei
- Zhu, Changsheng
- Zhang, Ce
- Tang, Bing
- Wang, Shengwei
- Wu, Guixin
- Zou, Yubao
- Huang, Xiaohong
- Hui, Rutai
- Wang, Shuiyun
- Wang, Jizheng
Producer: 20200724
In:
Orphanet journal of rare diseases vol. 14
Availability: No items available.
|
|
|
153.
|
A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines. [electronic resource] by
- Wang, Jianbo
- Zhang, Jia
- Li, Xueli
- Wang, Zhexin
- Lei, Dongchun
- Wang, Guofang
- Li, Jianguo
- Zhang, Shoumin
- Li, Zhenlu
- Li, Ming
Producer: 20171107
In:
Acta dermato-venereologica vol. 97
Availability: No items available.
|
|
|
154.
|
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong. [electronic resource] by
- Yu, Kris P T
- Luk, Ho-Ming
- Leung, Gordon K C
- Mak, Christopher C Y
- Cheng, Shirley S W
- Hau, Edgar W L
- Chan, David K H
- Lam, Stephen T S
- Tong, Tony M F
- Chung, Brian H Y
- Lo, Ivan F M
Producer: 20200327
In:
American journal of medical genetics. Part C, Seminars in medical genetics vol. 181
Availability: No items available.
|
|
|
155.
|
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. [electronic resource] by
- Hahn, Andreas
- Lauriol, Jessica
- Thul, Josef
- Behnke-Hall, Kachina
- Logeswaran, Tushiha
- Schänzer, Anne
- Böğürcü, Nuray
- Garvalov, Boyan K
- Zenker, Martin
- Gelb, Bruce D
- von Gerlach, Susanne
- Kandolf, Reinhard
- Kontaridis, Maria I
- Schranz, Dietmar
Producer: 20151217
In:
American journal of medical genetics. Part A vol. 167A
Availability: No items available.
|
|
|
156.
|
|
|
|
157.
|
|
|
|
158.
|
|
|
|
159.
|
|
|
|
160.
|
|