Further comments on the Neu-Laxova syndrome

Cyclic Vomiting Syndrome in Patients Affected by Jansen-de Vries Syndrome: Results From an International Survey.

American journal of medical genetics. Part A·2024

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Clinical genetics·2017

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Clinical genetics·2015

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.

The British journal of dermatology·2010

Cerebrovascular disorders in children with the factor V Leiden mutation.

Journal of child neurology·2001

Congenital abnormalities among children with cerebral palsy: More evidence for prenatal antecedents.

The Journal of pediatrics·2001

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Sellar region neurocytomas exhibit a CIMP and neuroendocrine-like epigenetic signature distinct from other intra-axial neurocytomas.

Acta neuropathologica·2026

Mechanistic insights into the transcription-mediated roles of non-coding RNAs in gene regulation.

Biochimica et biophysica acta. Gene regulatory mechanisms·2026

Infantile Central Nervous System Juvenile Xanthogranuloma With Somatic CSF1R Mutation Responsive to Imatinib Monotherapy.

Pediatric blood & cancer·2026

Fostering inclusive participation in non-invasive neurotechnology research: a community-based study with an underrepresented population.

Frontiers in human neuroscience·2026

Retrospective study with long-term clinical follow-up of a cohort of patients with benign epileptiform variants on EEG.

Neurologia·2026

Prognostic significance of cerebrospinal fluid tau biomarkers in amyloid-negative A-T + N + neurodegeneration: A retrospective cohort study.

Journal of Alzheimer's disease : JAD·2026

Related Experiment Videos

Further comments on the Neu-Laxova syndrome

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Cyclic Vomiting Syndrome in Patients Affected by Jansen-de Vries Syndrome: Results From an International Survey.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.

Cerebrovascular disorders in children with the factor V Leiden mutation.

Congenital abnormalities among children with cerebral palsy: More evidence for prenatal antecedents.

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Limb anomalies: Developmental and evolutionary aspects.

Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

Sellar region neurocytomas exhibit a CIMP and neuroendocrine-like epigenetic signature distinct from other intra-axial neurocytomas.

Mechanistic insights into the transcription-mediated roles of non-coding RNAs in gene regulation.

Infantile Central Nervous System Juvenile Xanthogranuloma With Somatic CSF1R Mutation Responsive to Imatinib Monotherapy.

Fostering inclusive participation in non-invasive neurotechnology research: a community-based study with an underrepresented population.

Retrospective study with long-term clinical follow-up of a cohort of patients with benign epileptiform variants on EEG.

Prognostic significance of cerebrospinal fluid tau biomarkers in amyloid-negative A-T + N + neurodegeneration: A retrospective cohort study.

Related Experiment Videos

Further comments on the Neu-Laxova syndrome

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