Nicholas D. Manton

North Adelaide, SA, Australia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 11 publications

Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.

Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.

Journal: Pathology

Published: April 06, 2024

Pathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome.

Pathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome.

Journal: Pathology

Published: April 05, 2024

Pediatric Hematochezia Caused by Intestinal Ganglioneuromatous Polyposis.

Pediatric Hematochezia Caused by Intestinal Ganglioneuromatous Polyposis.

Journal: Journal of pediatric gastroenterology and nutrition

Published: June 13, 2022

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Journal: Brain : a journal of neurology

Published: June 04, 2021

Paediatric fronto-orbital osteoblastoma: case report.

Paediatric fronto-orbital osteoblastoma: case report.

Journal: Orbit (Amsterdam, Netherlands)

Published: January 11, 2021

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Journal: Journal of inherited metabolic disease

Published: January 10, 2017

A prospective observational study of the effect of critical illness on ultrastructural and microscopic morphology of duodenal mucosa.

A prospective observational study of the effect of critical illness on ultrastructural and microscopic morphology of duodenal mucosa.

Journal: Critical care and resuscitation : journal of the Australasian Academy of Critical Care Medicine

Published: June 01, 2016

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.

Journal: American journal of medical genetics. Part A

Published: May 19, 2016

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Journal: American journal of medical genetics. Part A

Published: August 20, 2014

Heterogeneity of fibrosis patterns in non-alcoholic fatty liver disease supports the presence of multiple fibrogenic pathways.

Heterogeneity of fibrosis patterns in non-alcoholic fatty liver disease supports the presence of multiple fibrogenic pathways.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: August 14, 2012

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Journal: Neuromuscular disorders : NMD

Published: June 07, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026