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1 Ergebnisse
1
Clinical Heterogeneity and Different Phenotypes in Patients..:
Parra, Alejandro
;
Rabin, Rachel
;
Pappas, John
...
info:eu-repo/semantics/altIdentifier/doi/10.3390/genes14061179. , 2023
Link:
https://hdl.handle.net/20.500.11850/621900
RT Journal T1
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
UL https://suche.suub.uni-bremen.de/peid=base-ftethz:oai:www.research-collection.ethz.ch:20.500.11850_621900&Exemplar=1&LAN=DE A1 Parra, Alejandro A1 Rabin, Rachel A1 Pappas, John A1 Pascual, Patricia A1 Cazalla, Mario A1 Arias, Pedro A1 Gallego-Zazo, Natalia A1 Santana, Alfredo A1 Arroyo, Ignacio A1 Artigas, Mercè A1 Pachajoa, Harry A1 Alanay, Yasemin A1 Akgun-Dogan, Ozlem A1 Ruaud, Lyse A1 Couque, Nathalie A1 Levy, Jonathan A1 Porras-Hurtado, Gloria Liliana A1 Santos-Simarro, Fernando A1 Ballesta-Martinez, Maria Juliana A1 Guillén-Navarro, Encarna A1 Muñoz-Hernández, Hugo A1 id_orcid:0 000-0003-1193-4602 PB MDPI YR 2023 K1 SETD2 K1 Luscan-Lumish syndrome K1 Rabin-Pappas syndrome K1 intellectual developmental disorder K1 autosomal dominant 70 K1 overgrowth K1 intellectual disability K1 autism spectrum disorder K1 MRD70 K1 LLS K1 RAPAS JF info:eu-repo/semantics/altIdentifier/doi/10.3390/genes14061179 LK http://dx.doi.org/https://hdl.handle.net/20.500.11850/621900 DO https://hdl.handle.net/20.500.11850/621900 SF ELIB - SuUB Bremen
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