SMN gene deletion in variant of infantile spinal muscular atrophy

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Journal of medical genetics·2003

[Preimplantation genetic diagnosis and its psychological effects].

Journal de gynecologie, obstetrique et biologie de la reproduction·2003

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Journal of medical genetics·2003

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Lancet (London, England)·2003

Identification of seven novel mutations in the GAN gene.

Human mutation·2003

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Journal of medical genetics·2003

The public health challenges of children's and adolescents' digital media use: applying the digital determinants of health as an interpretive framework.

Lancet (London, England)·2026

Governing the digital determinants of health for children and young people: a global public health imperative.

Lancet (London, England)·2026

The digital determinants of health: a new era for global public health.

Lancet (London, England)·2026

8 weeks versus 12 weeks of sofosbuvir-velpatasvir for treatment-naive, non-cirrhotic, chronic hepatitis C (RESOLVE): a multicentre, open-label, non-inferiority, randomised controlled trial in India.

Lancet (London, England)·2026

Cardiovascular safety of orforglipron versus insulin glargine in adults with type 2 diabetes at increased cardiovascular risk (ACHIEVE-4): a phase 3, event-driven, randomised, open-label, non-inferiority, active comparator trial.

Lancet (London, England)·2026

A trembling detour to the diagnosis of encephalitis: a neuroborreliosis case report.

Lancet (London, England)·2026

Multisite Anodal Direct Current Stimulation Preserves Motor Function and Modulates Key Cellular Pathways in TDP-43 and SOD1 Mouse Models of Amyotrophic Lateral Sclerosis.

Neuromodulation : journal of the International Neuromodulation Society·2026

Efficacy and Safety of Non-invasive Brain Stimulation in Non-migraine Primary Headache Disorders: A Systematic Review and Meta-analysis.

Annals of Indian Academy of Neurology·2026

Clinical characteristics associated with pulmonary function decline despite sustained nintedanib therapy in systemic autoimmune rheumatic disease-related progressive pulmonary fibrosis.

Modern rheumatology·2026

Blood-brain barrier opening with focused ultrasound reduces neuromelanin in a non-human primate model.

Brain : a journal of neurology·2026

Recommendations for the diagnosis and management of neurofibromatosis type 1 in Singapore: A Delphi consensus.

Annals of the Academy of Medicine, Singapore·2026

Defining the Clinical Phenotypic Ground Truth: Expert Interrater Agreement in Hyperkinetic Movement Disorders.

Movement disorders clinical practice·2026

Related Experiment Videos

SMN gene deletion in variant of infantile spinal muscular atrophy

Related Concept Videos

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

[Preimplantation genetic diagnosis and its psychological effects].

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Identification of seven novel mutations in the GAN gene.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

The public health challenges of children's and adolescents' digital media use: applying the digital determinants of health as an interpretive framework.

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Cardiovascular safety of orforglipron versus insulin glargine in adults with type 2 diabetes at increased cardiovascular risk (ACHIEVE-4): a phase 3, event-driven, randomised, open-label, non-inferiority, active comparator trial.

A trembling detour to the diagnosis of encephalitis: a neuroborreliosis case report.

Multisite Anodal Direct Current Stimulation Preserves Motor Function and Modulates Key Cellular Pathways in TDP-43 and SOD1 Mouse Models of Amyotrophic Lateral Sclerosis.

Efficacy and Safety of Non-invasive Brain Stimulation in Non-migraine Primary Headache Disorders: A Systematic Review and Meta-analysis.

Clinical characteristics associated with pulmonary function decline despite sustained nintedanib therapy in systemic autoimmune rheumatic disease-related progressive pulmonary fibrosis.

Blood-brain barrier opening with focused ultrasound reduces neuromelanin in a non-human primate model.

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SMN gene deletion in variant of infantile spinal muscular atrophy

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