Results 191 to 200 of about 1,360,274 (268)

The Effect of A Likely Overemphasis on Ficiency-Related Test Attributes on Acmg Recommendations and Access To Newborn Screening (Nbs) [PDF]

Value in Health, 2014
openaire   +2 more sources

Newborn Screening: Equity for Aboriginal and Torres Strait Islander Families in the Context of Emerging Genomics. [PDF]

Med J Aust
Garvey G, Norris S, Scarfe J, Lyons L.
europepmc   +1 more source

Expanding Conditions for Newborn Screening-Findings from an Untargeted Metabolomics and Lipidomics Discovery Study. [PDF]

Int J Neonatal Screen
Ashenden AJ, Rozek T, Anastasi L, Chowdhury A, Lam K, Siu CW, King J, Merlin T, Smith N, Saxon B, Bratkovic D, Barnett C, Scott HS, Ranieri E, Louise J, Kassahn KS.   +15 more
europepmc   +1 more source

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

Towards a consensus on the early management of infants identified with cystic fibrosis following newborn screening (NBS)

Journal of Cystic Fibrosis, 2009
Sermet-Gaudelus, I., Mayell, S., Southern, K.W.   +2 more
openaire   +1 more source

Parental Perceptions and Decision-Making Processes Regarding Expanded Newborn Screening: A Qualitative Study. [PDF]

Int J Neonatal Screen
Harazaki M, Wada Y, Notake M, Takabayashi N, Kurebayashi F, Hawke P, Hatta T, Usui T, Yamazaki H.   +8 more
europepmc   +1 more source

Beyond Newborn Screening: Clinical Outcomes and Genotypic Spectrum Underlying Maple Syrup Urine Disease in Mexico. [PDF]

Int J Neonatal Screen
Vela-Amieva M, Reyna-Fabián ME, Fernández-Hernández L, Guillén-López S, López-Mejía L, Alcantara-Ortigoza MA, Gonzalez-Del Angel A, Estandía-Ortega B, Ibarra-González I, Paz-Castillo L, Fernández-Lainez C.   +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

Optimizing Informed Consent for Australian Newborn Bloodspot Screening and Research: Consensus Workshop Insights and Recommendations. [PDF]

Int J Neonatal Screen
Mazariego C, Ramanathan M, Johnston DA, Li Z, McGill BC, Okamura M, Kelada L, Juraskova I, Wakefield CE, Taylor N.   +9 more
europepmc   +1 more source

P045 Results from a newborn screening (NBS) pilot study for cystic fibrosis in the Republic of Macedonia

Journal of Cystic Fibrosis, 2019
S. Fustik, V. Anastasovska, D. Plaseska-Karanfilska, L. Spirevska, A. Stamatova, M. Pesevska, M. Terzikj   +6 more
openaire   +1 more source