Results
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3861.
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3862.
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Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening. [electronic resource] by
- Qian, Jicheng
- Wang, Xiaonan
- Liu, Jia
- Zhong, Junyuan
- Le, Yanqun
- Melchior Tellier, Laurent C A
- Liu, Chao
- Jiang, Pingping
- Gao, Rui
- Wang, Yuan
Producer: 20180511
In:
Journal of pediatric endocrinology & metabolism : JPEM vol. 30
Availability: No items available.
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3863.
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Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection. [electronic resource] by
- Braslavsky, Débora
- Méndez, Maria Virginia
- Prieto, Laura
- Keselman, Ana
- Enacan, Rosa
- Gruñeiro-Papendieck, Laura
- Jullien, Nicolas
- Savenau, Alexandru
- Reynaud, Rachel
- Brue, Thierry
- Bergadá, Ignacio
- Chiesa, Ana
Producer: 20180608
In:
Hormone research in paediatrics vol. 88
Availability: No items available.
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3864.
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3865.
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3866.
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3867.
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3868.
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Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation. [electronic resource] by
- Delgado Pecellín, Isabel
- Pérez Ruiz, Estela
- Álvarez Ríos, Ana Isabel
- Delgado Pecellín, Carmen
- Yahyaoui Macías, Raquel
- Carrasco Hernández, Laura
- Marcos Luque, Irene
- Caro Aguilera, Pilar
- Moreno Valera, María José
- Quintana Gallego, María Esther
Producer: 20191024
In:
Archivos de bronconeumologia vol. 54
Availability: No items available.
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3869.
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3870.
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3871.
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3872.
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Penetrance is a critical parameter for assessing the disease liability of CFTR variants. [electronic resource] by
- Boussaroque, A
- Audrézet, M-P
- Raynal, C
- Sermet-Gaudelus, I
- Bienvenu, T
- Férec, C
- Bergougnoux, A
- Lopez, M
- Scotet, V
- Munck, A
- Girodon, E
Producer: 20211018
In:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 19
Availability: No items available.
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3873.
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3874.
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3875.
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3876.
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3877.
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3878.
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3879.
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3880.
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