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Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 10, 2024
Adult syndromology: challenges, opportunities and perspectives: <i>Illustrated by the description of four adults with Costello syndrome</i>
Ariane Schmetz, Maria Juliana Ballesta-Martínez, Bertrand Isidor, et al.
Molecular Cytogenetics
|
June 29, 2018
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability
Luca Lovrecic, Chiara Gnan, Federica Baldan, et al.
European Journal of Medical Genetics
|
September 9, 2008
A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome
Laurianne Le Gloan, Olivier Pichon, Bertrand Isidor, et al.
Stem Cell Research
|
January 10, 2020
iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity
Vincent Gatinois, Romain Desprat, Fabienne Becker, et al.
American Journal of Medical Genetics. Part A
|
April 25, 2013
Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance
Bertrand Isidor, Tiphaine Lefebvre, Sébastien Barbarot, et al.
American Journal of Medical Genetics. Part A
|
July 6, 2016
Mandibular dysostosis without microphthalmia caused by OTX2 deletion
Xénia Latypova, Sylvain Bordereau, Alice Bleriot, et al.
American Journal of Medical Genetics. Part A
|
October 16, 2007
Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth
Cedric Le Caignec, Bertrand Isidor, Ulrika de Pontbriand, et al.
American Journal of Medical Genetics. Part A
|
January 12, 2022
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant
Jose Andres Morales, Irene Valenzuela, Ivon Cuscó, et al.
Medecine Sciences : M/S
|
February 27, 2024
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction]
Silvestre Cuinat, Stéphane Bézieau, Wallid Deb, et al.
Ophthalmic Genetics
|
March 2, 2019
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome
Marie Le Grignou, Alice Bleriot, Mathilde Nizon, et al.
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of 37
Search research articles
Search
Showing results (31-40 of 365) with videos related to
Sort By:
Page
of 37
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 10, 2024
Adult syndromology: challenges, opportunities and perspectives: <i>Illustrated by the description of four adults with Costello syndrome</i>
Ariane Schmetz, Maria Juliana Ballesta-Martínez, Bertrand Isidor, et al.
Molecular Cytogenetics
|
June 29, 2018
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability
Luca Lovrecic, Chiara Gnan, Federica Baldan, et al.
European Journal of Medical Genetics
|
September 9, 2008
A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome
Laurianne Le Gloan, Olivier Pichon, Bertrand Isidor, et al.
Stem Cell Research
|
January 10, 2020
iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity
Vincent Gatinois, Romain Desprat, Fabienne Becker, et al.
American Journal of Medical Genetics. Part A
|
April 25, 2013
Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance
Bertrand Isidor, Tiphaine Lefebvre, Sébastien Barbarot, et al.
American Journal of Medical Genetics. Part A
|
July 6, 2016
Mandibular dysostosis without microphthalmia caused by OTX2 deletion
Xénia Latypova, Sylvain Bordereau, Alice Bleriot, et al.
American Journal of Medical Genetics. Part A
|
October 16, 2007
Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth
Cedric Le Caignec, Bertrand Isidor, Ulrika de Pontbriand, et al.
American Journal of Medical Genetics. Part A
|
January 12, 2022
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant
Jose Andres Morales, Irene Valenzuela, Ivon Cuscó, et al.
Medecine Sciences : M/S
|
February 27, 2024
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction]
Silvestre Cuinat, Stéphane Bézieau, Wallid Deb, et al.
Ophthalmic Genetics
|
March 2, 2019
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome
Marie Le Grignou, Alice Bleriot, Mathilde Nizon, et al.
Page
of 37