Frumkin A

Family name	Frumkin
Given name	Ayala
Initials	A
ORCID	ORCID 0000-0001-9103-9717
Affiliations	Department of Genetic and Metabolic DiseasesHadassah‐Hebrew University Medical Center Jerusalem Israel

1 publications

PubMed DOI Crossref

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.

Plesser Duvdevani M, Pettersson M, Eisfeldt J, ..., Lindstrand A, Harel T

Am. J. Med. Genet. A 182 (5) 1143-1151 [2020-05-00; online 2020-03-03]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

SciLifeLab Data Centre

Publications 9.5.0