Publications:

Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.

European Journal Of Pediatrics

Marouane, A A; Olde Keizer, R A C M RACM; Frederix, G W J GWJ; Vissers, L E L M LELM; de Boode, W P WP; van Zelst-Stams, W A G WAG

Publication Date: 2022-01

Variant appearance in text: FBN1: 3152T>G; Phe1051Cys

PubMed Link: 34347148

Variant Present in the following documents:

• 431_2021_4213_MOESM3_ESM.xlsx, sheet 3

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Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Human Mutation

Overwater, Eline E; Marsili, Luisa L; Baars, Marieke J H MJH; Baas, Annette F AF; van de Beek, Irma I; Dulfer, Eelco E; van Hagen, Johanna M JM; Hilhorst-Hofstee, Yvonne Y; Kempers, Marlies M; Krapels, Ingrid P IP; Menke, Leonie A LA; Verhagen, Judith M A JMA; Yeung, Kak K KK; Zwijnenburg, Petra J G PJG; Groenink, Maarten M; van Rijn, Peter P; Weiss, Marjan M MM; Voorhoeve, Els E; van Tintelen, J Peter JP; Houweling, Arjan C AC; Maugeri, Alessandra A

Publication Date: 2018-09

Variant appearance in text: FBN1: 3152T>G; Phe1051Cys

PubMed Link: 29907982

Variant Present in the following documents:

• Main text
• HUMU-39-1173.pdf

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