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Revue Medicale Suisse
|
February 25, 2014
[Genetics of childhood epilepsies: for who? how? why?]
Sébastien Lebon, Belinda Campos-Xavier, Luisa Bonafé, et al.
Human Genetics
|
January 11, 2003
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis
Ana Belinda Campos-Xavier, Jorge M Saraiva, Letícia M Ribeiro, et al.
Molecular Genetics and Metabolism Reports
|
March 4, 2021
Spinal cerebrotendinous xanthomatosis: A case report and literature review
Isis Atallah, Diego San Millán, Wicki Benoît, et al.
BMC Endocrine Disorders
|
August 22, 2021
Elevated lactate in Mauriac syndrome: still a mystery
Brice Touilloux, Henri Lu, Belinda Campos-Xavier, et al.
Rheumatology International
|
October 18, 2018
Progressive pseudorheumatoid dysplasia: a rare childhood disease
Sofia Torreggiani, Marta Torcoletti, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A
|
October 30, 2024
Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants
Isis Atallah, Katarina Cisarova, Cécile Guenot, et al.
Orphanet Journal of Rare Diseases
|
August 27, 2015
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta
Uschi Lindert, Marius Kraenzlin, Ana Belinda Campos-Xavier, et al.
Genes
|
April 17, 2020
The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases
Camille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, et al.
American Journal of Medical Genetics. Part A
|
November 4, 2004
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
Russia Ha-Vinh, Yasemin Alanay, Ruud A Bank, et al.
American Heart Journal Plus : Cardiology Research and Practice
|
November 10, 2025
Reduced native T<sub>1</sub> on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B
Betim Redzepi, Panagiotis Antiochos, Christel Tran, et al.
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Search research articles
Search
Showing results (1-10 of 51) with videos related to
Sort By:
Page
of 6
Revue Medicale Suisse
|
February 25, 2014
[Genetics of childhood epilepsies: for who? how? why?]
Sébastien Lebon, Belinda Campos-Xavier, Luisa Bonafé, et al.
Human Genetics
|
January 11, 2003
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis
Ana Belinda Campos-Xavier, Jorge M Saraiva, Letícia M Ribeiro, et al.
Molecular Genetics and Metabolism Reports
|
March 4, 2021
Spinal cerebrotendinous xanthomatosis: A case report and literature review
Isis Atallah, Diego San Millán, Wicki Benoît, et al.
BMC Endocrine Disorders
|
August 22, 2021
Elevated lactate in Mauriac syndrome: still a mystery
Brice Touilloux, Henri Lu, Belinda Campos-Xavier, et al.
Rheumatology International
|
October 18, 2018
Progressive pseudorheumatoid dysplasia: a rare childhood disease
Sofia Torreggiani, Marta Torcoletti, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A
|
October 30, 2024
Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants
Isis Atallah, Katarina Cisarova, Cécile Guenot, et al.
Orphanet Journal of Rare Diseases
|
August 27, 2015
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta
Uschi Lindert, Marius Kraenzlin, Ana Belinda Campos-Xavier, et al.
Genes
|
April 17, 2020
The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases
Camille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, et al.
American Journal of Medical Genetics. Part A
|
November 4, 2004
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
Russia Ha-Vinh, Yasemin Alanay, Ruud A Bank, et al.
American Heart Journal Plus : Cardiology Research and Practice
|
November 10, 2025
Reduced native T<sub>1</sub> on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B
Betim Redzepi, Panagiotis Antiochos, Christel Tran, et al.
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of 6