Results 151 to 160 of about 1,245,890 (249)

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France. [PDF]

BMJ Open
Level C, Thauvin-Robinet C, Binquet C, Duffourd Y, Davoine E, Chevarin M, Tran-Mau-Them F, Lemaitre M, Bruel AL, Safraou H, Salvi D, Tisserant E, Lecommandeur E, Charreton A, Hassine A, de Tayrac M, Redon R, Barc J, Schmitt S, Piard J, Kuentz P, Cormier C, Malbos M, Racine C, Chabrol B, Cheillan D, Tardy V, Colin E, Bris C, Mercier S, Nizon M, Gaudillat L, Loizeau V, Lenelle C, Mottet N, Simon E, Arnoux JB, Carpentier M, Renaud C, Ziegler A, Lejeune C, Jannot AS, Asensio ML, Rollier P, Odent S, Bezieau S, Pasquier L, Huet F, Faivre L.   +48 more
europepmc   +1 more source

Newborn Screening Quality Assurance Program annual summary report 2015 [PDF]

AMENDED REPORT- Version 33a of the Newborn Screening Annual Summary Report reflects a correction in domestic and foreign cutoff statistics (pages 9-14) and the sample table in Figure 4 (page21).

core  

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy. [PDF]

J Inherit Metab Dis
Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME.   +11 more
europepmc   +1 more source

Newborn screening in Karnataka: A scoping review of the landscape. [PDF]

PLOS Glob Public Health
Kuriakose LM, Mohan D, Choudhury MC.
europepmc   +1 more source

The cost-benefit of newborn screening for X-linked agammaglobulinemia and related B-cell lymphopenia. [PDF]

Immunol Res
Grunebaum E, Tenembaum V, Quinn J, Modell F, Somech R.   +4 more
europepmc   +1 more source

19 Pancreatic sufficiency and insufficiency in cystic fibrosis newborn screening (CF NBS)

Journal of Cystic Fibrosis, 2012
Sands, D., Mielus, M., Zybert, K., Walicka, K., Piotrowski, R., Oitarzewski, M.   +5 more
openaire   +1 more source

Cystic Fibrosis Newborn Screening: Progress and Perspectives. [PDF]

Int J Neonatal Screen
Sontag MK, McColley SA.
europepmc   +1 more source

Mol Genet Metab [PDF]

Newborn screening (NBS) is intended to identify congenital conditions prior to the onset of symptoms in order to provide early intervention that leads to improved outcomes.

core  

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective. [PDF]

Regen Ther
Batchuluun K, Batjargal K, Tsevgee A, Enkhtur A, Stipan N, Unurbat E, Chimeddorj B, Nyamdavaa K, Boldbaatar D, Ganbaatar E, Umezawa A.   +10 more
europepmc   +1 more source

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye. [PDF]

Mol Genet Metab Rep
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H.   +3 more
europepmc   +1 more source