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Germline mutations in HRAS proto-oncogene cause Costello syndrome. [electronic resource] by
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- Kurosawa, Kenji
- Ohashi, Hirofumi
- Tanaka, Yukichi
- Filocamo, Mirella
- Kato, Kumi
- Suzuki, Yoichi
- Kure, Shigeo
- Matsubara, Yoichi
Producer: 20051220
In:
Nature genetics vol. 37
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Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23). [electronic resource] by
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- Kelbova, Christina
- Weidensee, Sabine
- Peters, Hartmut
- Ropers, Hans-Hilger
- Ullmann, Reinhard
- Erdogan, Fikret
- Jurkatis, Jan
- Menzel, Corinna
- Kalscheuer, Vera
- Demuth, Stephanie
Producer: 20080429
In:
Ophthalmic genetics vol. 29
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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. [electronic resource] by
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- 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
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Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations. [electronic resource] by
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- Khan, Nahid Akthar
- Bindu, Parayil Sankaran
- Taly, Arun B
- Gayathri, N
- Bharath, M M Srinivas
- Govindaraju, C
- Arvinda, H R
- Nagappa, Madhu
- Sinha, Sanjib
- Thangaraj, K
Producer: 20150528
In:
Brain & development vol. 36
Availability: No items available.
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