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Colorectal Cancer in Iran: Molecular Epidemiology and Screening Strategies

Journal of Cancer Epidemiology, 2015-01, Vol.2015, p.48-57

2015

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Determinants of Cervical Cancer Screening Uptake among Women in Ilorin, North Central Nigeria: A Community-Based Study

Journal of cancer epidemiology, 2016-01, Vol.2016, p.6469240-8

2016

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Incidence and Outcomes of Desmoplastic Small Round Cell Tumor: Results from the Surveillance, Epidemiology, and End Results Database

Journal of Cancer Epidemiology, 2014-01, Vol.2014 (2014), p.84-88

2014

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Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes

International journal of molecular sciences, 2024-08, Vol.25 (17), p.9387

2024

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Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment

International journal of molecular sciences, 2023-05, Vol.24 (10), p.9064

2023

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Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

The Journal of pediatrics, 2016-09, Vol.176, p.142-149.e1

2016

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Rothmund-Thomson syndrome

Orphanet journal of rare diseases, 2010-01, Vol.5 (1), p.2-2, Article 2

2010

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Breast Cancer Prevalence and Mortality among Hispanic Subgroups in the United States, 2009–2013

Journal of cancer epidemiology, 2016-01, Vol.2016, p.8784040-5

2016

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Genetic and Clinical Features of Medullary Thyroid Carcinoma: The Experience of a Single Center in Costa Rica

Journal of cancer epidemiology, 2016-01, Vol.2016, p.9637173-6

2016

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From clinical findings to the pathomechanism of poikiloderma with neutropenia

British journal of haematology, 2024-02, Vol.204 (2), p.395-396

Larizza, Lidia

2024

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Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein–Taybi Intellectual Disability Syndromes

Frontiers in neuroscience, 2021-10, Vol.15, p.745684-745684

2021

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Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease

Frontiers in genetics, 2024-10, Vol.15, p.1494860

2024

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Incidence of Gastric Cancer in Marrakech and Casablanca, Morocco

Journal of Cancer Epidemiology, 2015-01, Vol.2015, p.58-63

2015

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Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons

Neural regeneration research, 2022-01, Vol.17 (1), p.5-14

2022

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Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants

International journal of molecular sciences, 2022-11, Vol.23 (22), p.14491

2022

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Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling

International journal of molecular sciences, 2023-02, Vol.24 (4), p.4028

2023

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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.88-98

2021

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Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

Molecular neurobiology, 2020-09, Vol.57 (9), p.3685-3701

2020

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Prevalence of beckwith-wiedemann syndrome in North West of Italy

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2481-2486

2013

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Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

International journal of molecular sciences, 2019-07, Vol.20 (15), p.3621

2019

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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Human genetics, 2017-03, Vol.136 (3), p.307-320

2017

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Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients

International journal of molecular sciences, 2021-05, Vol.22 (11), p.5777

2021

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Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

Cell reports (Cambridge), 2012-06, Vol.1 (6), p.648-655

2012

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Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

Frontiers in genetics, 2024-03, Vol.15, p.1358334-1358334

2024

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Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

Frontiers in neurology, 2020-12, Vol.11, p.613035-613035

2020

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Colorectal Cancer in Iran: Molecular Epidemiology and Screening Strategies

Determinants of Cervical Cancer Screening Uptake among Women in Ilorin, North Central Nigeria: A Community-Based Study

Incidence and Outcomes of Desmoplastic Small Round Cell Tumor: Results from the Surveillance, Epidemiology, and End Results Database

Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes

Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

Rothmund-Thomson syndrome

Breast Cancer Prevalence and Mortality among Hispanic Subgroups in the United States, 2009–2013

Genetic and Clinical Features of Medullary Thyroid Carcinoma: The Experience of a Single Center in Costa Rica

From clinical findings to the pathomechanism of poikiloderma with neutropenia

Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein–Taybi Intellectual Disability Syndromes

Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease

Incidence of Gastric Cancer in Marrakech and Casablanca, Morocco

Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons

Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants

Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

Prevalence of beckwith-wiedemann syndrome in North West of Italy

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

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