Results 251 to 260 of about 212,548 (293)

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing. [PDF]

NPJ Genom Med
Keefe AC, Jensen DM, Pham MM, Au NYT, Beckman E, Penon-Portmann M, Shelkowitz E, Bend R, Morrow MM, Kruszka P, Vats D, Russell BE, Chan E, Wong D, Rabani A, O'Grady L, Sahai I, Widmeyer K, Sperry ED, Hallinan BE, Tryon R, Lund TC, Eichler FS, Sun A, Bennett JT.   +24 more
europepmc   +1 more source

Transforming services for children with hearing difficulty and their families: a good practice guide [PDF]

, 2008

core  

Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study

Kaplanis J, Deen D, Sivakumar P, de Almeida Gomes M, Puzriakova A, Leong I, Savage K, Aldam G, Skelton J, Quinn P, Parrish A, Baple E, To M, Stone K, Bick D, Pichini A, Tuff-Lacey A, Scott R, Thomas E, Kasperaviciute D.   +19 more
europepmc   +1 more source

Newborn screening for central congenital hypothyroidism: past, present and future. [PDF]

Eur Thyroid J
Garrelfs MR, Mooij CF, Boelen A, van Trotsenburg ASP, Zwaveling-Soonawala N.   +4 more
europepmc   +1 more source

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project. [PDF]

Orphanet J Rare Dis
Saier C, Sansen S, Berghout J, Freyler K, Einhorn M, Einhorn Y, Matalonga L, Beltran S, Novelli A, Selvatici R, Fortunato F, Montanari S, Martinez-Fresno M, Gumus G, Agolini E, Garnier N, Ferlini A, Bertini E, Kirschner J.   +18 more
europepmc   +1 more source

Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics. [PDF]

Ital J Pediatr
Hu H, Ma Q, Wang Y, Song W, Xu H.
europepmc   +1 more source

Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?

J Clin Endocrinol Metab
Sarafoglou K, Gaviglio A, Wolf C, Lorentz CP, Lteif A, Kyllo J, Radloff G, Detwiler Z, Cuthbert CD, Hodges JS, Grosse SD, Greene CN, Cordovado S.   +12 more
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Newborn Screening

Critical Reviews in Clinical Laboratory Sciences, 2009
Screening newborns for inherited disorders provides an opportunity for pre-symptomatic identification and early intervention to prevent or mitigate morbidity and mortality associated with these conditions. Since the introduction of newborn screening in 1962 to screen for phenylketonuria, technological advances have enabled the screening panel to expand
Inderneel, Sahai, Deborah, Marsden
openaire   +2 more sources

Newborn Screening

Pediatric Clinics of North America, 2023
The goal of newborn screening is to identify medical conditions that can cause significant morbidity and/or mortality if not treated early in life. Pediatricians often play a vital role in the initial disclosure of newborn screening results and coordination of confirmatory testing, treatment, and referral to specialty care.
openaire   +2 more sources