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List of works by Alice Goldenberg

Antenatal manifestations of mitochondrial respiratory chain deficiency

scientific article

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

scientific article

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

scientific article

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

scientific article (publication date: May 2003)

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

scientific article

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

scientific article

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

scientific article

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

scientific article

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

scientific article published on 16 October 2012

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

scientific article

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