Search Results - "Schnabel-Besson E"

A multi-dimensional framework for establishing and managing a genomic newborn screening program.

Authors: Schnabel-Besson E Dikow N Alex K et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Feb 28. Date of Electronic Publication: 2026 Feb 28.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Parental acceptability of newborn screening expansion in the genomic era: A nationwide French survey informed by the Theoretical Framework of Acceptability (SeDeN-p3).

Authors: Level, Camille Faivre, Laurence Lemaitre, Margot et al.

Source: PLoS ONE. 6/15/2026, Vol. 21 Issue 6, p1-22. 22p.

A CONCEPTUAL ANALYSIS OF THE FEMINIST COUNSELING APPROACH IN THE CONTEXT OF EDUCATION AND GENDER EQUALITY.

Authors: Sagita, Widya Mardhatillah Masril

Source: World Psychology. Dec2025, Vol. 4 Issue 3, p729-739. 11p.

Gene Editing Strategies for Neurological and Mental Disorders: Advances in Delivery, Methodology, and Clinical Translation.

Authors: Elias, Amer Stern, Shani

Source: Cells (2073-4409). Apr2026, Vol. 15 Issue 8, p720. 30p.

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Authors: Veldman A Arar CE Kiewiet MBG et al.

Source: Metabolomics : Official journal of the Metabolomic Society [Metabolomics] 2026 Jun 25; Vol. 22 (4). Date of Electronic Publication: 2026 Jun 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101274889 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-3890 (Electronic) Linking ISSN: 15733882 NLM ISO Abbreviation: Metabolomics Subsets: MEDLINE

Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.

Authors: Handoom, Bedour Alohali, Eman Elsagher, Hifa et al.

Source: Orphanet Journal of Rare Diseases. 11/17/2025, Vol. 20 Issue 1, p1-20. 20p.

Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes.

Authors: Bani M Russo S Gasperini S et al.

Source: European journal of pediatrics [Eur J Pediatr] 2026 Apr 29; Vol. 185 (5). Date of Electronic Publication: 2026 Apr 29.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Refugee children and inherited metabolic disorders: lessons from Türkiye and global implications.

Authors: Yoldaş Çelik M Köşeci B

Source: Pediatric research [Pediatr Res] 2026 Apr 24. Date of Electronic Publication: 2026 Apr 24.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE

The invisible emergencies: metabolic and neuro-critical disorders often missed in the pediatric ED - a narrative review.

Authors: Abady E Karam KN Khaleel SQ et al.

Source: International journal of emergency medicine [Int J Emerg Med] 2026 Mar 31; Vol. 19 (1). Date of Electronic Publication: 2026 Mar 31.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101469435 Publication Model: Electronic Cited Medium: Print ISSN: 1865-1372 (Print) Linking ISSN: 18651372 NLM ISO Abbreviation: Int J Emerg Med Subsets: PubMed not MEDLINE

Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.

Authors: Tutty E Kanga-Parabia A Kugenthiran N et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Feb 24. Date of Electronic Publication: 2026 Feb 24.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

"Jumping too far ahead": Australian healthcare professional, scientist, and policy maker perspectives on using genomics in newborn screening.

Authors: Scarfe J Turner A Meagher C et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Oct 14. Date of Electronic Publication: 2025 Oct 14.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Novel advanced patient-derived in vitro models of pediatric movement disorders to develop personalized therapeutic strategies.

Authors: Yeadon S Salazar-Villacorta A Kurian MA et al.

Source: Frontiers in neurology [Front Neurol] 2026 Jun 17; Vol. 17, pp. 1810863. Date of Electronic Publication: 2026 Jun 17 (Print Publication: 2026).

Publication Type: Journal Article; Review

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.

Authors: Schnabel-Besson E Garbade SF Gleich F et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12784. Date of Electronic Publication: 2024 Aug 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.

Authors: Huang Z Zhou W

Source: Pediatric investigation [Pediatr Investig] 2026 Jan 06; Vol. 10 (1), pp. 70-85. Date of Electronic Publication: 2026 Jan 06 (Print Publication: 2026).

Publication Type: Journal Article; Review

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101731527 Publication Model: eCollection Cited Medium: Internet ISSN: 2574-2272 (Electronic) Linking ISSN: 25742272 NLM ISO Abbreviation: Pediatr Investig Subsets: PubMed not MEDLINE

Newborn screening for rare diseases: expanding the paradigm in the genomic era.

Authors: Grošelj U; University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

Source: Journal of perinatal medicine [J Perinat Med] 2025 Sep 29; Vol. 54 (1), pp. 116-122. Date of Electronic Publication: 2025 Sep 29 (Print Publication: 2026).

Publication Type: Journal Article; Review

Journal Info: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 0361031 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1619-3997 (Electronic) Linking ISSN: 03005577 NLM ISO Abbreviation: J Perinat Med Subsets: MEDLINE

The History of and Advances in Newborn Screening: Where Do We Stand?

Authors: Anderson S Velinov M

Source: Genes [Genes (Basel)] 2026 Mar 23; Vol. 17 (3). Date of Electronic Publication: 2026 Mar 23.

Publication Type: Journal Article; Review; Historical Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE