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The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions

Genes, 2024-03, Vol.15 (3), p.332

2024

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P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype

Genetics in Medicine Open, 2024, Vol.2, p.101206, Article 101206

2024

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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

BMC medical genomics, 2019-07, Vol.12 (1), p.105-105, Article 105

2019

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Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

Molecular cytogenetics, 2018-08, Vol.11 (1), p.50-5, Article 50

2018

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Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant

BMJ case reports, 2022-12, Vol.15 (12), p.e248995

2022

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Management of major bleeds in patients with immune thrombocytopenia

Journal of thrombosis and haemostasis, 2020-07, Vol.18 (7), p.1783-1790

2020

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Severe Epilepsy in an Individual with a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members

Pediatric neurology, 2024-09

2024

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MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up

Journal of medical genetics, 2015-11, Vol.52 (Suppl 1), p.A5-A5

2015

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Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report

Neurology. Genetics, 2021-10, Vol.7 (5), p.e618-e618

2021

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Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor

Neurology, 2016-11, Vol.87 (21), p.e248

2016

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Urgent Management of Bleeding in Immune Thrombocytopenia: Towards a Standardized Protocol in the Emergency Department

Blood, 2018-11, Vol.132 (Supplement 1), p.3517-3517

2018

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Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.399-403

2018

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Emergency Management of Patients with Immune Thrombocytopenia and Severe Bleeding

Blood, 2017-12, Vol.130, p.4852-4852

2017

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Selective serotonin reuptake inhibitor discontinuation during pregnancy: at what risk?

Canadian family physician, 2014-12, Vol.60 (12), p.1105-1106

2014

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Primary mediastinal paraganglioma associated with a familial variant in the succinate dehydrogenase B subunit gene

Journal of surgical oncology, 2018-02, Vol.117 (2), p.160-162

2018

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Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.1070-1075

2016

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De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2725-2730

2017

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The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

Clinical case reports, 2016-04, Vol.4 (4), p.351-355

2016

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Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia

Journal of child neurology, 2018-05, Vol.33 (6), p.397-404

2018

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The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up

Clinical case reports, 2016, Vol.4 (4), p.351-355

2016

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Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

Molecular cytogenetics, 2018, Vol.11, p.50-50

2018

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The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions

P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant

Management of major bleeds in patients with immune thrombocytopenia

Severe Epilepsy in an Individual with a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members

MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up

Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report

Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor

Urgent Management of Bleeding in Immune Thrombocytopenia: Towards a Standardized Protocol in the Emergency Department

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

Emergency Management of Patients with Immune Thrombocytopenia and Severe Bleeding

Selective serotonin reuptake inhibitor discontinuation during pregnancy: at what risk?

Primary mediastinal paraganglioma associated with a familial variant in the succinate dehydrogenase B subunit gene

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay

The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia

The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

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