Search Results - "Burrill N"

产前眼脑肾综合征一例.

Alternate Title: A Case of Prenatal Oculocerebrorenal Syndrome.

Authors: 郑凯 李淑媛 石惠杰 et al.

Source: Journal of International Reproductive Health/Family Planning. 2026, Vol. 45 Issue 2, p112-115. 4p.

Expanded CRB2-related disease phenotype: multisystem involvement and post-transplant complications in monozygotic twins.

Authors: Plonsky Toder, Moran Pollack, Shirley Tibi, Rami et al.

Source: Pediatric Nephrology. Oct2025, Vol. 40 Issue 10, p3093-3099. 7p.

Expanding Genetic Counselor Roles: A Model for Global Research Development.

Authors: Muraresku CC McCormick EM Rockart L et al.

Source: Genes [Genes (Basel)] 2024 Jul 01; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 01.

Publication Type: Journal 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

Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.

Authors: Wild KT Reichert SL Dulik MC et al.

Source: Genetics in medicine open [Genet Med Open] 2025 Nov 20; Vol. 4, pp. 103476. Date of Electronic Publication: 2025 Nov 20 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings.

Authors: Wright R Burrill N Crane H et al.

Source: Pediatric neurology [Pediatr Neurol] 2025 Aug; Vol. 169, pp. 93-97. Date of Electronic Publication: 2025 May 15.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Association between exercise and changes in gut microbiota profile: a review.

Authors: Khaledi, Mansoor Darvishi, Mohammad Sameni, Fatemeh et al.

Source: Sport Sciences for Health. Jun2024, Vol. 20 Issue 2, p273-286.

Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.

Authors: Wilson, Ella Leventer, Richard Cunningham, Chloe et al.

Source: Orphanet Journal of Rare Diseases. 9/5/2024, Vol. 19 Issue 1, p1-10. 10p.

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ).

Authors: Francisco, Rita Brasil, Sandra Pascoal, Carlota et al.

Source: Orphanet Journal of Rare Diseases. 3/24/2022, Vol. 17 Issue 1, p1-18. 18p.

Mitochondrial disease patient motivations and barriers to participate in clinical trials.

Authors: Zolkipli-Cunningham Z Xiao R Stoddart A et al.

Source: PloS one [PLoS One] 2018 May 17; Vol. 13 (5), pp. e0197513. Date of Electronic Publication: 2018 May 17 (Print Publication: 2018).

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2.

Authors: Süncak S Tüysüz B Yıldırım RN et al.

Source: Journal of human genetics [J Hum Genet] 2026 Apr; Vol. 71 (4), pp. 195-202. Date of Electronic Publication: 2025 Nov 05.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective.

Authors: Monticelli, Maria Francisco, Rita Brasil, Sandra et al.

Source: Orphanet Journal of Rare Diseases. 7/30/2022, Vol. 17 Issue 1, p1-16. 16p.

Neonatal neurocritical care considerations for prenatally identified neurological disorders.

Authors: Gano D Boardman JP Agarwal S et al.

Corporate Authors: Gano D Boardman JP Agarwal S et al.

Source: Pediatric research [Pediatr Res] 2026 Jan 07. Date of Electronic Publication: 2026 Jan 07.

Publication Type: Journal Article; Review

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

Xanthohumol exerts protective function on adriamycin-induced podocyte injury.

Authors: Chen H Lin H Qian R et al.

Source: European journal of nutrition [Eur J Nutr] 2025 Sep 18; Vol. 64 (6), pp. 278. Date of Electronic Publication: 2025 Sep 18.

Publication Type: Journal Article

Journal Info: Publisher: Steinkopff Country of Publication: Germany NLM ID: 100888704 Publication Model: Electronic Cited Medium: Internet ISSN: 1436-6215 (Electronic) Linking ISSN: 14366207 NLM ISO Abbreviation: Eur J Nutr Subsets: MEDLINE

Development of a phone application for assessing fatigue levels in rare disorders: a feasibility and validity study.

Authors: Chu, Virginia W. T. Payne, Samantha J. Hunter, Mackenzie P. et al.

Source: Journal of Rare Diseases. 11/6/2023, Vol. 2 Issue 1, p1-10. 10p.

Parent- and Intensivist-Reported Utility for Neonatal Genomic Testing.

Authors: Callahan KP Wild KT Heck A et al.

Source: JAMA network open [JAMA Netw Open] 2026 Apr 01; Vol. 9 (4), pp. e265689. Date of Electronic Publication: 2026 Apr 01.

Publication Type: Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE; In Process

School performance and undetected and untreated visual problems in schoolchildren in Ireland; a population-based cross-sectional study.

Authors: Harrington, Siofra Davison, Peter A. O'Dwyer, Veronica

Source: Irish Educational Studies. Jun2022, Vol. 41 Issue 2, p367-388. 22p.

Subject Terms: *School children, *Academic achievement, *Children with visual disabilities, Amblyopia

Geographic Terms: Ireland

Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.

Authors: Burrill N Teefey CP Wright R et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 May; Vol. 197 (5), pp. e63988. Date of Electronic Publication: 2025 Jan 08.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.

Authors: Burrill N Schindewolf E Pilchman L et al.

Source: Prenatal diagnosis [Prenat Diagn] 2025 Mar; Vol. 45 (3), pp. 310-317. Date of Electronic Publication: 2025 Jan 01.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

The impact of traumatic brain injuries: A global perspective.

Authors: Hyder, Adnan A. Wunderlich, Colleen A. Puvanachandra, Prasanthi et al.

Source: NeuroRehabilitation. 2007, Vol. 22 Issue 5, p341-353. 13p. 2 Charts, 3 Graphs.

Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.

Authors: Burrill N Crane H Khalek N et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63719. Date of Electronic Publication: 2024 May 24.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE