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International Journal of Molecular Sciences
|
August 26, 2022
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense <i>RNF213</i> Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review
Claudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, et al.
The American Journal of Cardiology
|
February 23, 2019
Role of Preoperative Cardiovascular Magnetic Resonance in Planning Ventricular Septal Myectomy in Patients With Obstructive Hypertrophic Cardiomyopathy
Paolo Spirito, Irene Binaco, Daniele Poggio, et al.
Journal of Medical Genetics
|
March 28, 2023
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|
July 14, 2018
Coronary pathology of inherited generalized arterial calcification of infancy: a case report
Duccio Federici, Sho Torii, Matteo Ciuffreda, et al.
Journal of the American College of Cardiology
|
October 10, 2015
Transaortic Chordal Cutting: Mitral Valve Repair for Obstructive Hypertrophic Cardiomyopathy With Mild Septal Hypertrophy
Paolo Ferrazzi, Paolo Spirito, Attilio Iacovoni, et al.
Frontiers in Pediatrics
|
August 15, 2022
Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome
Francesco Saettini, Tiziana Angela Coliva, Francesca Vendemini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 18, 2020
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency
Silvia Masnada, Cecilia Parazzini, Paolo Bini, et al.
Italian Journal of Pediatrics
|
August 25, 2024
Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature
Irene Picciolli, Angelo Ratti, Berardo Rinaldi, et al.
Frontiers in Oncology
|
November 10, 2018
Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction
Laura Caleca, Irene Catucci, Gisella Figlioli, et al.
Orphanet Journal of Rare Diseases
|
December 20, 2024
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter
Silvia Castiglioni, Laura Pezzoli, Lidia Pezzani, et al.
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of 18
Search research articles
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Showing results (91-100 of 178) with videos related to
Sort By:
Page
of 18
International Journal of Molecular Sciences
|
August 26, 2022
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense <i>RNF213</i> Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review
Claudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, et al.
The American Journal of Cardiology
|
February 23, 2019
Role of Preoperative Cardiovascular Magnetic Resonance in Planning Ventricular Septal Myectomy in Patients With Obstructive Hypertrophic Cardiomyopathy
Paolo Spirito, Irene Binaco, Daniele Poggio, et al.
Journal of Medical Genetics
|
March 28, 2023
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|
July 14, 2018
Coronary pathology of inherited generalized arterial calcification of infancy: a case report
Duccio Federici, Sho Torii, Matteo Ciuffreda, et al.
Journal of the American College of Cardiology
|
October 10, 2015
Transaortic Chordal Cutting: Mitral Valve Repair for Obstructive Hypertrophic Cardiomyopathy With Mild Septal Hypertrophy
Paolo Ferrazzi, Paolo Spirito, Attilio Iacovoni, et al.
Frontiers in Pediatrics
|
August 15, 2022
Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome
Francesco Saettini, Tiziana Angela Coliva, Francesca Vendemini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 18, 2020
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency
Silvia Masnada, Cecilia Parazzini, Paolo Bini, et al.
Italian Journal of Pediatrics
|
August 25, 2024
Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature
Irene Picciolli, Angelo Ratti, Berardo Rinaldi, et al.
Frontiers in Oncology
|
November 10, 2018
Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction
Laura Caleca, Irene Catucci, Gisella Figlioli, et al.
Orphanet Journal of Rare Diseases
|
December 20, 2024
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter
Silvia Castiglioni, Laura Pezzoli, Lidia Pezzani, et al.
Page
of 18