Spinal muscular atrophy of childhood: genetics

Mental health and behavioural problems in children with XXYY: a comparison with intellectual disabilities.

Journal of intellectual disability research : JIDR·2019

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Molecular psychiatry·2018

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

Frontiers in genetics·2018

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Molecular psychiatry·2016

Genetic testing and screening of individuals at risk of NF2.

Clinical genetics·2011

Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and research.

Journal of medical ethics·2008

Immersive virtual reality arm exercise, physical activity, and cardiometabolic health in cerebral palsy: A phase 1 trial.

Developmental medicine and child neurology·2026

Colony-stimulating factor 1 receptor-related disorder: Clinical variability of biallelic variants.

Developmental medicine and child neurology·2026

Perinatal, socioenvironmental, and neurological factors to predict motor delay in infants born preterm.

Developmental medicine and child neurology·2026

Rett syndrome in the therapeutic era: Rethinking diagnosis, boundaries, clinical outcomes, and financing.

Developmental medicine and child neurology·2026

Risk factor profiles in infants born preterm and at term with cerebral palsy in Argentina: Findings from the Argentine Cerebral Palsy Register.

Developmental medicine and child neurology·2026

Maternal depression as a mediator of preterm birth and child development.

Developmental medicine and child neurology·2026

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

Annals of medicine·2026

Familial short stature: genetic architecture, risk stratification, and precision management.

Frontiers in endocrinology·2026

Shared genetic architecture between DTI-ALPS traits and neurodegenerative diseases.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

[Analysis of clinical phenotypes and pathogenicity of a c.4476+5G>T variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

APOL1 kidney disease: a critical narrative review of molecular mechanisms, clinical heterogeneity, and the emerging therapeutic landscape.

International urology and nephrology·2026

Longitudinal Characterization of Giant ANK2-Depleted Monkeys Suggests Neurodevelopmental-Disorder-Like Phenotypes.

Research (Washington, D.C.)·2026

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Spinal muscular atrophy of childhood: genetics

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Mental health and behavioural problems in children with XXYY: a comparison with intellectual disabilities.

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Genetic testing and screening of individuals at risk of NF2.

Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and research.

Immersive virtual reality arm exercise, physical activity, and cardiometabolic health in cerebral palsy: A phase 1 trial.

Colony-stimulating factor 1 receptor-related disorder: Clinical variability of biallelic variants.

Perinatal, socioenvironmental, and neurological factors to predict motor delay in infants born preterm.

Rett syndrome in the therapeutic era: Rethinking diagnosis, boundaries, clinical outcomes, and financing.

Risk factor profiles in infants born preterm and at term with cerebral palsy in Argentina: Findings from the Argentine Cerebral Palsy Register.

Maternal depression as a mediator of preterm birth and child development.

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

Familial short stature: genetic architecture, risk stratification, and precision management.

Shared genetic architecture between DTI-ALPS traits and neurodegenerative diseases.

[Analysis of clinical phenotypes and pathogenicity of a c.4476+5G>T variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus].

APOL1 kidney disease: a critical narrative review of molecular mechanisms, clinical heterogeneity, and the emerging therapeutic landscape.

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Spinal muscular atrophy of childhood: genetics

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