Search Results - "Applegate CD"

Bridging the Gaps: Complexities and Challenges in Studying SUDEP Using Animal Models.

Authors: Najeeb, Mariam Shen, Yuyan Gu, Bin

Source: Epilepsy Currents. May/Jun2026, Vol. 26 Issue 3, p234-241. 8p.

Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract.

Authors: Vendrig, Lisanne M. ten Hoor, Mayke A. C. König, Benthe H. et al.

Source: Pediatric Nephrology. Mar2025, Vol. 40 Issue 3, p685-699. 15p.

Phenotypic and genotypic insights into concurrent tertiary trisomy for 9p and 18p.

Authors: Wright, Carter A. Scheuerle, Angela E. Wilson, Kathleen et al.

Source: Molecular Cytogenetics (17558166). 2/10/2025, Vol. 18 Issue 1, p1-8. 8p.

Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases.

Authors: Braun DA Jühlen R Krausel V et al.

Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2026 Apr 29; Vol. 83 (1). Date of Electronic Publication: 2026 Apr 29.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

A novel USP51 variant in a patient with autism spectrum disorder and epilepsy.

Authors: Garg, Ria Pinard, Amelie Wallerstein, Robert

Source: Egyptian Journal of Medical Human Genetics. 11/16/2024, Vol. 25 Issue 1, p1-6. 6p.

The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.

Authors: Prada, Elisabetta Meossi, Camilla Marafon, Denise Piras et al.

Source: Italian Journal of Pediatrics. 9/19/2024, p1-9. 9p.

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1^rd8 mouse model.

Authors: Weatherly, Sonia M. Collin, Gayle B. Charette, Jeremy R. et al.

Source: PLoS Genetics. 6/8/2022, Vol. 18 Issue 6, p1-33. 33p.

Immunity in neuromodulation: probing neural and immune pathways in brain disorders.

Authors: Hours, C. Vayssière, Pia Gressens, P. et al.

Source: Journal of Neuroinflammation. 4/28/2025, Vol. 22 Issue 1, p1-38. 38p.

Molecular mechanisms in DYT- PRKRA : pathways regulated by PKR activator protein PACT.

Authors: Simon, Tricia A. Patel, Rekha C.

Source: Dystonia (2813-2106). 2025, p1-17. 17p.

Canonical and non-canonical functions of the non-coding RNA component (TERC) of telomerase complex.

Authors: Cao, Chongwen Gong, Weiyi Shuai, Yuanlong et al.

Source: Cell & Bioscience. 3/1/2025, Vol. 15 Issue 1, p1-17. 17p.

Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners.

Authors: Bondhus, Leroy Nava, Aileen A. Liu, Isabelle S. et al.

Source: Epigenetics & Chromatin. 2/1/2025, Vol. 18 Issue 1, p1-19. 19p.

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Authors: Santini A Tognon A Richard AC et al.

Source: Genome medicine [Genome Med] 2026 Apr 08; Vol. 18 (1). Date of Electronic Publication: 2026 Apr 08.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Effectiveness of Telehealth Versus In-Person Informed Consent: Randomized Study of Comprehension and Decision-Making.

Authors: Khairat, Saif Ottmar, Paige Chourasia, Prabal et al.

Source: Journal of Medical Internet Research. 2025, Vol. 27, p1-10. 10p.

辅助生殖技术助孕患者痛苦表露的潜在剖面分析.

Alternate Title: Latent Profile Analysis of Distress Disclosure in Patients Undergoing Assisted Reproductive Technology.

Authors: 宋丹妮 朱蓉 蒲丛珊 et al.

Source: Journal of International Reproductive Health/Family Planning. 2024, Vol. 43 Issue 6, p441-446. 6p.

Leukocyte telomere length, allelic variations in related genes and risk of coronary heart disease in people with long-standing type 1 diabetes.

Authors: Sanchez, Manuel Kannengiesser, Caroline Hoang, Sophie et al.

Source: Cardiovascular Diabetology. 10/11/2022, Vol. 21 Issue 1, p1-10. 10p.

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Retinal capillaritis in a CRB1 -associated retinal dystrophy.

Authors: Murro, Vittoria Mucciolo, Dario Pasquale Sodi, Andrea et al.

Source: Ophthalmic Genetics. Dec2017, Vol. 38 Issue 6, p555-558. 4p.

Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.

Authors: Cheng, Zhihang Hagan, Richard Yeo, Damien C. M.

Source: Ophthalmic Genetics. Apr2022, Vol. 43 Issue 2, p253-257. 5p.

Photobiomodulation reduces hippocampal apoptotic cell death and produces a Raman spectroscopic "signature".

Authors: Davies, David J. Hadis, Mohammed Di Pietro, Valentina et al.

Source: PLoS ONE. 3/3/2022, Vol. 17 Issue 3, p1-19. 19p.

Inhibition of hyperactivity of the dorsal raphe 5‐HTergic neurons ameliorates hippocampal seizure.

Authors: Cheng, Heming Qi, Yingbei Lai, Nanxi et al.

Source: CNS Neuroscience & Therapeutics. Aug2021, Vol. 27 Issue 8, p963-972. 10p.