Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands.

Journal of community genetics·2021

"I would like to discuss it further with an expert": a focus group study of Finnish adults' perspectives on genetic secondary findings.

Journal of community genetics·2018

APOE and AGT in the Finnish p.Arg133Cys CADASIL population.

Acta neurologica Scandinavica·2015

The return of unexpected research results in a biobank study and referral to health care for heritable long QT syndrome.

Public health genomics·2013

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

Journal of medical genetics·2010

Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis.

The Journal of clinical endocrinology and metabolism·2010

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

Human molecular genetics·2026

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

Human molecular genetics·2026

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics·2026

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

Comparative Outcomes of Transscleral Four-Point Fixation with Closed Continuous-Loop Suture and Yamane Technique for Intraocular Lens Fixation.

Retina (Philadelphia, Pa.)·2026

The Utility of Optical Coherence Tomography Angiography Biomarkers in Detecting Diabetic Retinopathy.

Ophthalmic epidemiology·2026

Agreement of Anterior Segment Biometrics Measured Using Image-Registered Swept-Source OCT and High-Frequency Ultrasound Biomicroscopy.

Journal of glaucoma·2026

Association Between 24-Hour Intraocular Pressure Fluctuation and Retinal Nerve Fiber Layer Thickness Measured by Optical Coherence Tomography.

Journal of glaucoma·2026

LONGITUDINAL CHANGES IN PERI-ARTICULAR BMD USING QUANTITATIVE CT IN KNEE OA PATIENTS: DATA FROM THE IMI-APPROACH STUDY.

Osteoarthritis imaging·2026

Optical Coherence Tomography-Defined Vulnerable Plaques and Intracoronary Thrombus in Acute Coronary Syndromes: Insights From the OPTICO-ACS Program.

Journal of the American Heart Association·2026

Related Experiment Videos

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

Related Concept Videos

Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands.

"I would like to discuss it further with an expert": a focus group study of Finnish adults' perspectives on genetic secondary findings.

APOE and AGT in the Finnish p.Arg133Cys CADASIL population.

The return of unexpected research results in a biobank study and referral to health care for heritable long QT syndrome.

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis.

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Comparative Outcomes of Transscleral Four-Point Fixation with Closed Continuous-Loop Suture and Yamane Technique for Intraocular Lens Fixation.

The Utility of Optical Coherence Tomography Angiography Biomarkers in Detecting Diabetic Retinopathy.

Agreement of Anterior Segment Biometrics Measured Using Image-Registered Swept-Source OCT and High-Frequency Ultrasound Biomicroscopy.

Association Between 24-Hour Intraocular Pressure Fluctuation and Retinal Nerve Fiber Layer Thickness Measured by Optical Coherence Tomography.

LONGITUDINAL CHANGES IN PERI-ARTICULAR BMD USING QUANTITATIVE CT IN KNEE OA PATIENTS: DATA FROM THE IMI-APPROACH STUDY.

Optical Coherence Tomography-Defined Vulnerable Plaques and Intracoronary Thrombus in Acute Coronary Syndromes: Insights From the OPTICO-ACS Program.

Related Experiment Videos

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

Related Concept Videos

Related Articles