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Cytogenetic and Genome Research
|
February 3, 2020
Post-Essential Thrombocythemia Myelofibrosis and Multiple Isodicentric Y Chromosomes: A Unique Case among a Rare Association
Eric Dahlen, Sinziana I Sarghi, Florian Renosi, et al.
Fertility and Sterility
|
May 10, 2011
Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple
Paul Kuentz, Alphée Bailly, Anne-Claire Faure, et al.
Brain Sciences
|
October 31, 2020
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, et al.
Neuropediatrics
|
December 8, 2021
The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report
Geoffroy Delplancq, Mohamed Abdelatif Boukebir, Daniel Amsallem, et al.
Clinical Genetics
|
May 28, 2026
Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum
Estella Castillon, Paul Rollier, Didier Bessis, et al.
European Journal of Medical Genetics
|
December 12, 2022
Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism
Federico Di Rocco, Maria Lucia Licci, Aurore Garde, et al.
European Journal of Medical Genetics
|
August 14, 2018
Severe gynaecological involvement in Proteus Syndrome
Maella Severino-Freire, Aude Maza, Paul Kuentz, et al.
Clinical Genetics
|
July 22, 2025
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants
Céline Pebrel-Richard, Paul Kuentz, Anne-Claude Tabet, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2020
AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case
Francis Ramond, Marlène Rio, Bénédicte Héron, et al.
Clinical Genetics
|
February 21, 2024
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Camille Engel, Martin Chevarin, Juliette Piard, et al.
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Search research articles
Search
Showing results (1-10 of 75) with videos related to
Sort By:
Page
of 8
Cytogenetic and Genome Research
|
February 3, 2020
Post-Essential Thrombocythemia Myelofibrosis and Multiple Isodicentric Y Chromosomes: A Unique Case among a Rare Association
Eric Dahlen, Sinziana I Sarghi, Florian Renosi, et al.
Fertility and Sterility
|
May 10, 2011
Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple
Paul Kuentz, Alphée Bailly, Anne-Claire Faure, et al.
Brain Sciences
|
October 31, 2020
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, et al.
Neuropediatrics
|
December 8, 2021
The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report
Geoffroy Delplancq, Mohamed Abdelatif Boukebir, Daniel Amsallem, et al.
Clinical Genetics
|
May 28, 2026
Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum
Estella Castillon, Paul Rollier, Didier Bessis, et al.
European Journal of Medical Genetics
|
December 12, 2022
Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism
Federico Di Rocco, Maria Lucia Licci, Aurore Garde, et al.
European Journal of Medical Genetics
|
August 14, 2018
Severe gynaecological involvement in Proteus Syndrome
Maella Severino-Freire, Aude Maza, Paul Kuentz, et al.
Clinical Genetics
|
July 22, 2025
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants
Céline Pebrel-Richard, Paul Kuentz, Anne-Claude Tabet, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2020
AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case
Francis Ramond, Marlène Rio, Bénédicte Héron, et al.
Clinical Genetics
|
February 21, 2024
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Camille Engel, Martin Chevarin, Juliette Piard, et al.
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of 8