Dancing with Disruption : A New Approach to Navigating Life's Biggest Changes. [elektronicky zdroj]

Autor: Rossetti, Linda

Externí odkaz: Kolekce e-knih KNAV (Registrovani uzivatele: plny text online 5 minut, dalsi pristup na vyzadani. Registered users: full text online 5 minutes, further access on request.)

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Expansion of the phenotypic spectrum of KARS1‐related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.

Autor: Bejma, Taylor A., Beidler, Willa S., VanSickle, Elizabeth A., Prokop, Jeremy W., Brown, Wendy T., Scheurer‐Monaghan, Andrea, Rossetti, Linda Z.

Publikováno v: American Journal of Medical Genetics. Part A; Nov2024, Vol. 194 Issue 11, p1-6, 6p

A novel 3q interstitial deletion including GATA2 and ZNF148: A case report.

Autor: Martin, Elizabeth, VanSickle, Elizabeth A., Rossetti, Linda Z.

Publikováno v: American Journal of Medical Genetics. Part A; Aug2024, Vol. 194 Issue 8, p1-7, 7p

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype.

Autor: Rossetti, Linda Z.¹ (AUTHOR), Bekheirnia, Mir Reza¹ (AUTHOR), Lewis, Andrea M.¹ (AUTHOR), Mefford, Heather C.² (AUTHOR), Golden‐Grant, Katie² (AUTHOR), Tarczy‐Hornoch, Kristina³ (AUTHOR), Briere, Lauren C.⁴ (AUTHOR), Sweetser, David A.⁴ (AUTHOR), Walker, Melissa A.⁵ (AUTHOR), Kravets, Elijah⁶ (AUTHOR), Stevenson, David A.⁶ (AUTHOR), Bruenner, Georgette⁷ (AUTHOR), Sebastian, Jessica⁸ (AUTHOR), Knapo, Julia⁸ (AUTHOR), Rosenfeld, Jill A.¹ (AUTHOR), Marcogliese, Paul C.^1,9 (AUTHOR), Wangler, Michael F.^1,9 (AUTHOR) michael.wangler@bcm.edu

Publikováno v: Molecular Genetics & Genomic Medicine. Jan2021, Vol. 9 Issue 1, p1-7. 7p.