Results 251 to 260 of about 131,687 (292)

Why should a 5q spinal muscular atrophy neonatal screening program be started? [PDF]

Arq Neuropsiquiatr
Becker MM, Nardes F, Dangouloff T, Servais L, Araujo APQC, Gurgel-Giannetti J.   +5 more
europepmc   +1 more source

Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study. [PDF]

Int J Neonatal Screen
Paul A, Bense F, Boithias Guerot C, De La Rubia S, Lebeaux C, Papon JF.   +5 more
europepmc   +1 more source

Erratum: Neonatal screening for spinal muscular atrophy: A pilot study in Brazil. [PDF]

Genet Mol Biol
europepmc   +1 more source

Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease. [PDF]

Mol Genet Metab
Posern C, Dreyer B, Maier SL, Eichler F, Gelb MH, Santer R, Bley A, Murko S.   +7 more
europepmc   +1 more source

[Neonatal screening for critical congenital heart diseases in Peru: an urgent call]. [PDF]

Arch Peru Cardiol Cir Cardiovasc
Bravo-Jaimes K, Lozano Moreno D, Orozco J, Rosales W, Macedo N, Medina M, Huamán G, Márquez R, Valdez M, Vásquez Choy AL, Zapata HA, Sánchez Tonohuye J, Dávila Aliaga C.   +12 more
europepmc   +1 more source

Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

, 2010
C. Perone, G.S. Medeiros, D.M. del Castillo, M.J.B. de Aguiar, J.N. Januário   +4 more
openalex   +1 more source

Neonatal screening for sickle cell anemia, in a general hospital in Taubaté, SP.

, 2010
Sandja Assis Fernandes dos Santos, Lívia Aparecida Maia Braga de Campos Reis, Maria Cecília Barbosa de Toledo, Ana Cristina Gobbo César   +3 more
openalex   +1 more source