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Fetal and Pediatric Pathology
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April 24, 2025
Thoracic Giant Venous Malformation in a Stillbirth with <i>Pik3ca</i> Somatic Mutation
Nunzio Cosimo Mario Salfi, Sabrina Gismondi, Anna Martinelli, et al.
Orphanet Journal of Rare Diseases
|
April 18, 2020
Natural history of non-lethal Raine syndrome during childhood
Chiara Mameli, Giulia Zichichi, Nasim Mahmood, et al.
Molecular Genetics & Genomic Medicine
|
December 2, 2023
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study
Erica Rosina, Lidia Pezzani, Erika Apuril, et al.
AJNR. American Journal of Neuroradiology
|
October 15, 2024
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study
Ludovica Pasca, Filippo Arrigoni, Romina Romaniello, et al.
Molecular Cancer Research : MCR
|
January 4, 2008
Transcriptome profile of human colorectal adenomas
Jacob Sabates-Bellver, Laurens G Van der Flier, Mariagrazia de Palo, et al.
Frontiers in Neurology
|
January 26, 2023
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, et al.
Frontiers in Neurology
|
March 21, 2024
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, et al.
International Journal of Neonatal Screening
|
October 24, 2025
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study
Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, et al.
Clinical Genetics
|
April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases
Camilla Lucca, Erica Rosina, Lidia Pezzani, et al.
International Journal of Molecular Sciences
|
June 10, 2022
Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
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Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
Fetal and Pediatric Pathology
|
April 24, 2025
Thoracic Giant Venous Malformation in a Stillbirth with <i>Pik3ca</i> Somatic Mutation
Nunzio Cosimo Mario Salfi, Sabrina Gismondi, Anna Martinelli, et al.
Orphanet Journal of Rare Diseases
|
April 18, 2020
Natural history of non-lethal Raine syndrome during childhood
Chiara Mameli, Giulia Zichichi, Nasim Mahmood, et al.
Molecular Genetics & Genomic Medicine
|
December 2, 2023
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study
Erica Rosina, Lidia Pezzani, Erika Apuril, et al.
AJNR. American Journal of Neuroradiology
|
October 15, 2024
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study
Ludovica Pasca, Filippo Arrigoni, Romina Romaniello, et al.
Molecular Cancer Research : MCR
|
January 4, 2008
Transcriptome profile of human colorectal adenomas
Jacob Sabates-Bellver, Laurens G Van der Flier, Mariagrazia de Palo, et al.
Frontiers in Neurology
|
January 26, 2023
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, et al.
Frontiers in Neurology
|
March 21, 2024
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, et al.
International Journal of Neonatal Screening
|
October 24, 2025
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study
Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, et al.
Clinical Genetics
|
April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases
Camilla Lucca, Erica Rosina, Lidia Pezzani, et al.
International Journal of Molecular Sciences
|
June 10, 2022
Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
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of 4