Advanced search

Authors whose works are in public domain in at least one jurisdiction

List of works by Frank X Donovan

1-15 of 15 results

View this query on the Wikidata Query Service
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

scientific article published on 23 April 2013
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

scientific article published on 09 March 2017
Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia

scientific article published on June 15, 2015
iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations.

scientific article
Neuroanatomic, epigenetic and genetic differences in monozygotic twins discordant for attention deficit hyperactivity disorder.

scientific article published on 21 March 2017
Regulation of Alr1 Mg transporter activity by intracellular magnesium

scientific article published on 28 June 2011
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

scientific article published on 2 November 2017
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

scientific article published on 30 November 2017
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

scientific article published on 5 July 2017
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association

scientific article published on February 1, 2013
Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.

scientific article published on 15 May 2017
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

scientific article published on 3 February 2016
One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1.

scientific article
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

scientific article published on 26 September 2019
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer

Paulina is supported by:

About Paulina

Help