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Last Updated: 10/31/2025
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Found 46 publications
Caudal regression in fetus with de novo SMARCA2 pathogenic variant.
Journal: Prenatal diagnosis
Published: February 01, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 21, 2023
Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene.
Journal: Stem cell research
Published: July 28, 2023
Autism spectrum disorder in a patient with Nicolaides-Baraitser Syndrome: case report.
Journal: Einstein (Sao Paulo, Brazil)
Published: February 22, 2023
Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report.
Journal: Clinical dysmorphology
Published: February 13, 2023
Analysis of clinical characteristics and genetic variant in a child with Nicolaides-Baraitser syndrome due to maternal mosaicism
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 01, 2022
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Journal: Ophthalmic genetics
Published: June 28, 2022
Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.
Journal: Molecular genetics & genomic medicine
Published: December 22, 2021
Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion.
Journal: Cardiology in the young
Published: September 15, 2021
Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission.
Journal: Molecular genetics & genomic medicine
Published: May 24, 2021
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
Journal: BMC medical genomics
Published: May 12, 2021
Accelerated epigenetic age and shortened telomere length based on DNA methylation in Nicolaides-Baraitser syndrome.
Journal: Molecular genetics & genomic medicine
Published: April 07, 2021
Last Updated: 10/31/2025