Search Results - "Carey JC"

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).

Authors: Carey JC Hennekam RCM Lin AE et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Aug; Vol. 176 (8), pp. 1703-1705. Date of Electronic Publication: 2018 Jul 28.

Publication Type: Biography; Historical Article; 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

The reporting requirements of case reports and adherence of case report reporting guidelines in medical journals: an analysis of the authors' guide sections.

Authors: Taheri, Abolfazl Adibi, Peyman Sabbagh Jafari, Mojtaba et al.

Source: Journal of Medical Case Reports. 1/5/2023, Vol. 17 Issue 1, p1-8. 8p.

Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.

Authors: Di Sera T Velinder M Ward A et al.

Source: Scientific reports [Sci Rep] 2022 Apr 06; Vol. 12 (1), pp. 5800. Date of Electronic Publication: 2022 Apr 06.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE; PubMed not MEDLINE

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.

Authors: Lewis RG O'Shea JM Pizzo L et al.

Corporate Authors: Lewis RG O'Shea JM Pizzo L et al.

Source: BMC medical genomics [BMC Med Genomics] 2025 Nov 14; Vol. 18 (1), pp. 182. Date of Electronic Publication: 2025 Nov 14.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Author Correction: Crowther et al. reply.

Authors: Crowther TW Machmuller MB Carey JC et al.

Source: Nature [Nature] 2018 Aug; Vol. 560 (7716), pp. E1.

Publication Type: Journal Article; Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: PubMed not MEDLINE

GlASS - Global Aggregation of Stream Silica.

Authors: Jankowski KJ Johnson K Lyon NJ et al.

Source: Scientific data [Sci Data] 2025 Oct 20; Vol. 12 (1), pp. 1658. Date of Electronic Publication: 2025 Oct 20.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101640192 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4463 (Electronic) Linking ISSN: 20524463 NLM ISO Abbreviation: Sci Data Subsets: MEDLINE; PubMed not MEDLINE

Unveiling complexity: a case report on management of pyloric stricture in complex gastroschisis.

Authors: Rais, Siti Nurr Syafeena Mohd Shah, Mohd Shahrulsalam Kamaruddin, Nurul Adzimah et al.

Source: Egyptian Pediatric Association Gazette. 12/24/2025, Vol. 73 Issue 1, p1-7. 7p.

Unveiling a novel pathogenic SKI variant in a child with Shprintzen Goldberg syndrome.

Authors: Mittal, Payal Singh, Ritika Bhalla, Kapil

Source: Journal of Rare Diseases. 4/23/2026, Vol. 5 Issue 1, p1-4. 4p.

The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit.

Authors: Malone Jenkins S Palmquist RN Moore B et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Mar 23; Vol. 10 (1), pp. 26. Date of Electronic Publication: 2025 Mar 23.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Mechanistic insights into micro and nanosilicon for environmental stress mitigation in plant.

Authors: Panigrahi, Lipsa Leena Rout, Gyana Ranjan

Source: Discover Nano; 11/19/2025, Vol. 20 Issue 1, p1-28, 28p

Edward's syndrome neonate, a management conundrum of an anaesthesiologist.

Authors: Singh, Kunal Rawal, Shreem Ramesh, Athira et al.

Source: Journal of Indira Gandhi Institute of Medical Sciences. Jul-Dec2024, Vol. 10 Issue 2, p165-167. 3p.

EEG abnormalities in children with global developmental delay: A retrospective study.

Authors: Albaradie, Raidah Alshammari, Alaa K. Alsubaie, Fatima A. et al.

Source: Journal of Family Medicine & Primary Care. Apr2026, Vol. 15 Issue 4, p1546-1550. 5p.

Whole-profile-warming drives carbon loss linked to soil carbon stock.

Authors: Li, Zhengrong Fan, Lichao Wang, Mingda et al.

Source: Carbon Research. 2/15/2026, Vol. 5 Issue 1, p1-11. 11p.

Assessing changes in global fire regimes.

Authors: Sayedi, Sayedeh Sara Abbott, Benjamin W. Vannière, Boris et al.

Source: Fire Ecology. 2/8/2024, Vol. 20 Issue 1, p1-22. 22p.

This result is not displayed to guests.
Login for full access.

Simple Not Easy: a Phenomenological Study of School Counselor Clinical Supervision Experiences.

Authors: Gillen, Mark C. Howells, Renée C. Mercer, Vanessa

Source: International Journal for the Advancement of Counselling. Mar2024, Vol. 46 Issue 1, p113-129. 17p.

Utility of Non-Invasive Prenatal Test (NIPT) as a Screening Tool for Fetal Aneuploidy in a Family Medicine Setting in Saudi Arabia.

Authors: Abolfotouh, Mostafa A AlSharif, Shomoukh A AlRowaily, Mohammed A

Source: International Journal of Women's Health. Jan2026, Vol. 18, p1-10. 10p.

OEIS Complex: A Rare Fetal Autopsy Case Series with its Embryological Annotations.

Authors: Saini, Shubhi Geeta Pangtey, Babita et al.

Source: Journal of the Anatomical Society of India. Jan-Mar2026, Vol. 75 Issue 1, p8-11. 4p.

Silicon mediates geographic variation of herbivory-related traits in a widespread plant invader.

Authors: Lu, Jinan Guo, Yaolin Zhao, Yu-Jie et al.

Source: Journal of Plant Ecology. Dec2025, Vol. 18 Issue 6, p1-15. 15p.

Epigenome-wide profiling of trisomy 18 specific DNA methylation signatures in first-trimester chorionic villi.

Authors: Kim, Ju Yeon Yang, Su Ji Kim, Jin Woo et al.

Source: Clinical Epigenetics. 11/19/2025, Vol. 17 Issue 1, p1-13. 13p.