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Last Updated: 10/31/2025

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Found 40 publications

Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.

Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.

Journal: American journal of medical genetics. Part A
Published: February 18, 2024

Tuning the optoelectronic properties of selenophene-diketopyrrolopyrrole-based non-fullerene acceptor to obtain efficient organic solar cells through end-capped modification.

Tuning the optoelectronic properties of selenophene-diketopyrrolopyrrole-based non-fullerene acceptor to obtain efficient organic solar cells through end-capped modification.

Journal: Journal of molecular graphics & modelling
Published: August 28, 2023

A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.

A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.

Journal: The Journal of clinical endocrinology and metabolism
Published: June 12, 2023

A DFT study for improving the photovoltaic performance of organic solar cells by designing symmetric non-fullerene acceptors by quantum chemical modification on pre-existed LC81 molecule.

A DFT study for improving the photovoltaic performance of organic solar cells by designing symmetric non-fullerene acceptors by quantum chemical modification on pre-existed LC81 molecule.

Journal: Journal of molecular graphics & modelling
Published: May 29, 2023

A case of osteopathia striata with cranial sclerosis with facial nerve palsies.

A case of osteopathia striata with cranial sclerosis with facial nerve palsies.

Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: April 21, 2023

Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy.

Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy.

Journal: Ophthalmic genetics
Published: November 29, 2022

Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor.

Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor.

Journal: European journal of human genetics : EJHG
Published: September 21, 2021

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

Journal: American journal of medical genetics. Part A
Published: May 28, 2021

Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report.

Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report.

Journal: Medicine
Published: May 20, 2021

Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question.

Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question.

Journal: Pediatric blood & cancer
Published: March 25, 2021

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.

Journal: Genes
Published: November 03, 2020

Wilms tumor in patients with osteopathia striata with cranial sclerosis.

Wilms tumor in patients with osteopathia striata with cranial sclerosis.

Journal: European journal of human genetics : EJHG
Published: June 02, 2020
Showing 1-12 of 40

Last Updated: 10/31/2025