Jennifer Hague

5PUBLICATIONS
16CO-AUTHORS
Cancer geneticsSensor technology (incl. chemical aspects)Optical technologyEnvironmental epidemiologyGene mapping
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Publications (5)

|Mar 12, 2020
Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines.

Marc Tischkowitz, Sidong Huang, Susana Banerjee

|Mar 21, 2019
Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel <i>NIPBL</i> Pathogenic Variant.

Jennifer Hague, Philip Twiss, Zoe Mead

|May 13, 2017
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Jennifer Hague, Isabelle Delon, Kim Brugger

|Apr 09, 2017
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.

Rachel Allison, James R Edgar, Guy Pearson

|Feb 01, 2017
Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.

Jennifer Hague, Gerald Hackett, Carlo Acerini

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