[Von Recklinghausen disease: contributions of genetics and molecular biology]

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

Psychosocial quality of life in hereditary haemorrhagic telangiectasia patients.

Rhinology·2011

The new Ghent criteria for Marfan syndrome: what do they change?

Clinical genetics·2011

[Psychological aspects of bone marrow donation in donor brothers and sisters in bone marrow transplantation].

Pediatrie·1993

[Lethargy in the course of treatment with ranitidine in a newborn infant].

Pediatrie·1993

[Delayed detection of hip dislocation: is the physician to blame?].

Pediatrie·1993

[Renal tubular acidosis in children].

Pediatrie·1993

[CD23: structures, functions and practical perspectives in allergy reactions].

Pediatrie·1993

[Accessory thymus in cervical ectopy: apropos of a case].

Pediatrie·1993

Liang-Wang syndrome-associated variants in the BK potassium channel KCNMA1 disrupt channel trafficking and gating.

The Journal of biological chemistry·2026

Different variants, different cellular outcomes: Balanced KIF1A activity shapes synapse development.

The Journal of cell biology·2026

Correction: Prenatal and neonatal housing conditions affect anxiety-like behavior in adulthood in rats and interact with brain-derived neurotrophic factor (BDNF) Val66Met to alter expression of BDNF and stress markers in the ventral hippocampus.

Frontiers in molecular neuroscience·2026

Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.

BMC ophthalmology·2026

Genetic variants in NEF2L2 rs35652124 and GABRB3 rs2081648 genes: association with autism spectrum disorder in Iraqi children.

Neuroscience·2026

Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications.

European journal of pediatrics·2026

Related Experiment Videos

[Von Recklinghausen disease: contributions of genetics and molecular biology]

Related Concept Videos

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].

Psychosocial quality of life in hereditary haemorrhagic telangiectasia patients.

The new Ghent criteria for Marfan syndrome: what do they change?

[Psychological aspects of bone marrow donation in donor brothers and sisters in bone marrow transplantation].

[Lethargy in the course of treatment with ranitidine in a newborn infant].

[Delayed detection of hip dislocation: is the physician to blame?].

[Renal tubular acidosis in children].

[CD23: structures, functions and practical perspectives in allergy reactions].

[Accessory thymus in cervical ectopy: apropos of a case].

Liang-Wang syndrome-associated variants in the BK potassium channel KCNMA1 disrupt channel trafficking and gating.

Different variants, different cellular outcomes: Balanced KIF1A activity shapes synapse development.

Correction: Prenatal and neonatal housing conditions affect anxiety-like behavior in adulthood in rats and interact with brain-derived neurotrophic factor (BDNF) Val66Met to alter expression of BDNF and stress markers in the ventral hippocampus.

Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.

Genetic variants in NEF2L2 rs35652124 and GABRB3 rs2081648 genes: association with autism spectrum disorder in Iraqi children.

Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications.

Related Experiment Videos

[Von Recklinghausen disease: contributions of genetics and molecular biology]

Related Concept Videos

Related Articles