VACTERL Association with Hydrocephalus Clinical Case Series

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Molecular psychiatry·2016

La Prevention Des 13-Thalassemies En Belgique Francophone. II. Proposition D'Une Strategie.

Acta clinica Belgica·2016

Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease.

Journal of thrombosis and haemostasis : JTH·2014

Immunological abnormalities associated with hereditary haemorrhagic telangiectasia.

Journal of internal medicine·2013

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

Prenatal diagnosis·2012

[Pregnancy and Ehlers-Danlos vascular syndrome: patients' care and complications].

Journal de gynecologie, obstetrique et biologie de la reproduction·2012

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

Historical hydrometric context and explainable multi-horizon evaluation of a GloFAS-derived discharge product near Babahoyo, Ecuador.

Frontiers in artificial intelligence·2026

Homometallic dual-site Co/Ni-polyoxometalates with water-assisted proton channel for boosting nitrate-to-ammonia electrocatalysis: decoupling active hydrogen generation from nitrate reduction.

Journal of colloid and interface science·2026

Halide regulation of Co-centred interfacial water in MnCo2O4.5 for acidic oxygen evolution.

Chemical communications (Cambridge, England)·2026

Back diffusion of a Th-230-Ra-226 decay chain in a multilayer fractured-rock matrix with stagnant-zone and skin effects.

Journal of contaminant hydrology·2026

Pore fluid pH-salinity homogenization for sustained electroosmosis: Performance, energy efficiency and underlying mechanisms.

Journal of environmental management·2026

Exploring the Interplay of Oceanic Tides and Rainfall in Flood Susceptibility in an Exorheic Basin.

Anais da Academia Brasileira de Ciencias·2026

Related Experiment Videos

[Association of VACTERL and hydrocephalus: a new familial entity]

Related Concept Videos

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

La Prevention Des 13-Thalassemies En Belgique Francophone. II. Proposition D'Une Strategie.

Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease.

Immunological abnormalities associated with hereditary haemorrhagic telangiectasia.

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

[Pregnancy and Ehlers-Danlos vascular syndrome: patients' care and complications].

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.

Historical hydrometric context and explainable multi-horizon evaluation of a GloFAS-derived discharge product near Babahoyo, Ecuador.

Homometallic dual-site Co/Ni-polyoxometalates with water-assisted proton channel for boosting nitrate-to-ammonia electrocatalysis: decoupling active hydrogen generation from nitrate reduction.

Halide regulation of Co-centred interfacial water in MnCo2O4.5 for acidic oxygen evolution.

Back diffusion of a Th-230-Ra-226 decay chain in a multilayer fractured-rock matrix with stagnant-zone and skin effects.

Pore fluid pH-salinity homogenization for sustained electroosmosis: Performance, energy efficiency and underlying mechanisms.

Exploring the Interplay of Oceanic Tides and Rainfall in Flood Susceptibility in an Exorheic Basin.

Related Experiment Videos

[Association of VACTERL and hydrocephalus: a new familial entity]

Abstract:

Related Concept Videos

Related Articles