The Biomechanics of Fibrillin Microfibrils: Lessons from the Ciliary Zonule.

Autor: Rathaur, Pooja¹ (AUTHOR) poojar@wustl.edu, Rodriguez, Juan² (AUTHOR) juan.rodriguez@uhsp.edu, Kuchtey, John³ (AUTHOR) john.kuchtey@vumc.org, Insignares, Samuel³ (AUTHOR) samuel.insignares@vumc.org, Jones, Wendell B.¹ (AUTHOR), Kuchtey, Rachel W.^3,4 (AUTHOR) rachel.w.kuchtey@vumc.org, Bassnett, Steven¹ (AUTHOR) bassnett@wustl.edu

Publikováno v: Cells (2073-4409). Dec2024, Vol. 13 Issue 24, p2097. 18p.

Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.

Autor: Eichten C; University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA., Kuhl A; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Baker M; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Newborn Screening Laboratory, Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Kwon JM; Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Seroogy CM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Williams KB; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Center for Special Children, La Farge Medical Clinic - Vernon Memorial Healthcare, La Farge, Wisconsin, USA.

Publikováno v: Journal of genetic counseling [J Genet Couns] 2024 Dec; Vol. 33 (6), pp. 1285-1296. Date of Electronic Publication: 2024 Jan 10.

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis.

Autor: Nishijo, Daigo¹ (AUTHOR), Yagi, Hiroki^1,2 (AUTHOR) hiroki_yagi_19830414@yahoo.co.jp, Akiyama, Nana^2,3 (AUTHOR), Takeda, Norifumi^1,2 (AUTHOR), Ando, Masahiko^2,4 (AUTHOR), Yamauchi, Haruo^2,4 (AUTHOR), Takeda, Norihiko¹ (AUTHOR), Komuro, Issei^5,6 (AUTHOR), Mittal, Balraj (AUTHOR)

Publikováno v: Case Reports in Genetics. 8/15/2024, Vol. 2024, p1-6. 6p.

The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD.

Autor: Falah N; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.; Department of Medicine, Johns Hopkins All Children's Hospital, St. Petersburg, Florida, USA., Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Sasannejad C; Duke Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA., Gibson A; Division of Critical Care, Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA., Lee YL; Department of Medicine and Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Koeberl D; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63637. Date of Electronic Publication: 2024 Apr 29.

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