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MODY type 2 P59S GCK mutant: founder effect in South of Italy.

Autor: Delvecchio, M, Ludovico, O, Bellacchio, E, Stallone, R, Palladino, T, Mastroianno, S, Zelante, L, Sacco, M, Trischitta, V, Carella, M

Publikováno v: Clinical Genetics; Jan2013, Vol. 83 Issue 1, p83-87, 5p, 2 Diagrams, 2 Charts

The Telematic solutions in plastic surgery during COVID-19 pandemic.

Autor: De Santis G; Division of Plastic Surgery - Modena University Hospital. giorgio.desantis@unimore.it., Palladino T; Division of Plastic Surgery - Modena University Hospital. tepalladino@gmail.com., Leti Acciaro A; Division of Hand Surgery and Microsurgery - Modena University Hospital. andrealetiacciaro@libero.it., Starnoni M; Division of Plastic Surgery, Modena University Hospital. martastarn@gmail.com.

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Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

Autor: Yin, Rui^1,2 (AUTHOR), Wack, Maxime¹ (AUTHOR), Hassen-Khodja, Claire¹ (AUTHOR), McDuffie, Michael T.¹ (AUTHOR), Bliss, Geraldine³ (AUTHOR), Horn, Elizabeth J.³ (AUTHOR), Kothari, Cartik¹ (AUTHOR), McLarney, Brittany³ (AUTHOR), Davis, Rebecca³ (AUTHOR), Hanson, Kristen³ (AUTHOR), O'Boyle, Megan³ (AUTHOR), Betancur, Catalina⁴ (AUTHOR) catalina.betancur@inserm.fr, Avillach, Paul¹ (AUTHOR) Paul_Avillach@hms.harvard.edu

Publikováno v: Molecular Autism. 9/30/2024, Vol. 15 Issue 1, p1-18. 18p.

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.

Autor: GEZGİN, Yüksel^1,2, KIRNAZ, Berkay¹, BAYLAROV, Rauf³, BERDELİ, Afig^1,2,4 afigberdeli@yahoo.com

Publikováno v: Turkish Journal of Medical Sciences. 2024, Vol. 54 Issue 5, p1135-1146. 12p.