[Neuroblastoma--clinical and genetic aspects]

Early onset breast cancer in Ashkenazi women carriers of founder BRCA1/2 mutations: beyond 10 years of follow-up.

European journal of cancer care·2016

The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews.

Parkinsonism & related disorders·2015

Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers.

British journal of cancer·2014

The LRRK2 G2019S mutation is associated with Parkinson disease and concomitant non-skin cancers.

Neurology·2012

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

British journal of cancer·2009

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

The New England journal of medicine·2009

[Oculoplastics and Orbital Surgery Section: Orbital Fractures].

Harefuah·2026

[Atypical Presentation of Extensive Aortic Dissection: Lessons from a Silent Killer].

Harefuah·2026

[Eyeball or Eye Wheel?]

Harefuah·2026

[Emerging Trends in Pediatric rheumatology: Key Insights from the PReS 2025 European Congress - Helsinki, Finland, September 2025].

Harefuah·2026

[The Laterality of Endometriosis].

Harefuah·2026

[OASIS: Long-Term Implications on Women's Quality of Life].

Harefuah·2026

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Annals of human genetics·2026

Gerstmann-Straussler-Scheinker Disease With F198S Mutation Diagnosis on Repeat Genetic Testing: A Case Report.

Cureus·2026

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Frontiers in neurology·2026

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

HLA·2026

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Neuroscience·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

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Early onset breast cancer in Ashkenazi women carriers of founder BRCA1/2 mutations: beyond 10 years of follow-up.

The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews.

Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers.

The LRRK2 G2019S mutation is associated with Parkinson disease and concomitant non-skin cancers.

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

[Oculoplastics and Orbital Surgery Section: Orbital Fractures].

[Atypical Presentation of Extensive Aortic Dissection: Lessons from a Silent Killer].

[Eyeball or Eye Wheel?]

[Emerging Trends in Pediatric rheumatology: Key Insights from the PReS 2025 European Congress - Helsinki, Finland, September 2025].

[The Laterality of Endometriosis].

[OASIS: Long-Term Implications on Women's Quality of Life].

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Gerstmann-Straussler-Scheinker Disease With F198S Mutation Diagnosis on Repeat Genetic Testing: A Case Report.

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

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