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Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. [electronic resource] by
- Limongelli, Giuseppe
- Sarkozy, Anna
- Pacileo, Giuseppe
- Calabrò, Paolo
- Digilio, Maria Cristina
- Maddaloni, Valeria
- Gagliardi, Giulia
- Di Salvo, Giovanni
- Iacomino, Maria
- Marino, Bruno
- Dallapiccola, Bruno
- Calabrò, Raffaele
Producer: 20080507
In:
American journal of medical genetics. Part A vol. 146A
Availability: No items available.
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Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. [electronic resource] by
- Yu, Zhi-Hong
- Xu, Jie
- Walls, Chad D
- Chen, Lan
- Zhang, Sheng
- Zhang, Ruoyu
- Wu, Li
- Wang, Lina
- Liu, Sijiu
- Zhang, Zhong-Yin
Producer: 20130607
In:
The Journal of biological chemistry vol. 288
Availability: No items available.
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Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. [electronic resource] by
- Bhoj, Elizabeth J
- Yu, Zhenming
- Guan, Qiaoning
- Ahrens-Nicklas, Rebecca
- Cao, Kajia
- Luo, Minjie
- Tischler, Tanya
- Deardorff, Matthew A
- Zackai, Elaine
- Santani, Avni B
Producer: 20180213
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
Availability: No items available.
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