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Last Updated: 10/31/2025

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Found 56 publications

DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.

DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.

Journal: DNA repair
Published: March 27, 2023

The nucleotide excision repair proteins through the lens of molecular dynamics simulations.

The nucleotide excision repair proteins through the lens of molecular dynamics simulations.

Journal: DNA repair
Published: October 26, 2022

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.

Journal: BMC medical genomics
Published: February 16, 2021

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.

Journal: Clinical genetics
Published: November 17, 2020

COFS type 3 in an Indian family with antenatally detected arthrogryposis.

COFS type 3 in an Indian family with antenatally detected arthrogryposis.

Journal: American journal of medical genetics. Part A
Published: July 04, 2020

Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.

Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.

Journal: American journal of medical genetics. Part A
Published: July 02, 2020

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

Journal: American journal of medical genetics. Part A
Published: May 19, 2019

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.

Journal: Molecular genetics & genomic medicine
Published: November 28, 2018

Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus

Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: November 17, 2017

Anesthesia for intestinal obstruction in a six years old child with cerebro-oculo-facio-skeletal syndrome

Anesthesia for intestinal obstruction in a six years old child with cerebro-oculo-facio-skeletal syndrome

Journal: Revista brasileira de anestesiologia
Published: January 09, 2016

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Journal: American journal of medical genetics. Part A
Published: November 19, 2015

The ERCC1 and ERCC4 (XPF) genes and gene products.

The ERCC1 and ERCC4 (XPF) genes and gene products.

Journal: Gene
Published: March 04, 2015
Showing 1-12 of 56

Last Updated: 10/31/2025