Retinal cone dystrophy and chromosome 6(q26) deletions

Transanal total mesorectal excision for rectal cancer has been suspended in Norway.

The British journal of surgery·2019

Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.

Advances in medical sciences·2013

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

Clinical genetics·2012

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

Clinical genetics·2011

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.

Clinical and experimental dermatology·2010

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

Journal of medical genetics·2006

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

A Diagnostic Limitation of Carnett's Maneuver: A Case of Deep-Seated Abdominal Wall Angiolipoma Mimicking Visceral Pain.

Clinical case reports·2026

Full endoscopic decompression of ligamentum flavum cyst causing thoracic myelopathy: illustrative case.

Journal of neurosurgery. Case lessons·2026

Insertion free method for determining the phase diagram of complex fluids.

The Journal of chemical physics·2026

Curvature-induced smectic-C order of tangentially anchored hard spherocylinders on a sphere with a rigidly locked director field.

The Journal of chemical physics·2026

Enlarging Bilateral Perinephric Masses in Nephrotic Syndrome.

Clinical nuclear medicine·2026

When circular RNAs meet the genome: CiR-loops as chromatin regulators and disease drivers.

Nucleic acids research·2026

Related Experiment Videos

Retinal cone dystrophy and chromosome 6(q26) deletions

Related Concept Videos

Transanal total mesorectal excision for rectal cancer has been suspended in Norway.

Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

A Diagnostic Limitation of Carnett's Maneuver: A Case of Deep-Seated Abdominal Wall Angiolipoma Mimicking Visceral Pain.

Full endoscopic decompression of ligamentum flavum cyst causing thoracic myelopathy: illustrative case.

Insertion free method for determining the phase diagram of complex fluids.

Curvature-induced smectic-C order of tangentially anchored hard spherocylinders on a sphere with a rigidly locked director field.

Enlarging Bilateral Perinephric Masses in Nephrotic Syndrome.

When circular RNAs meet the genome: CiR-loops as chromatin regulators and disease drivers.

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Retinal cone dystrophy and chromosome 6(q26) deletions

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