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Laurence Perrin

Showing results (21-30 of 81) with videos related to

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Frontiers in Pediatrics|July 12, 2021
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K SignalingNidia Moreno-Corona, Loïc Chentout, Lucie Poggi, et al.
Bulletin Du Cancer|January 24, 2024
[Suspicion of constitutional abnormality at diagnosis of childhood leukemia: Update of the leukemia committee of the French Society of Childhood Cancers]Marion Strullu, Elie Cousin, Sandrine de Montgolfier, et al.
European Journal of Medical Genetics|February 15, 2012
A new lysosomal storage disorder resembling Morquio syndrome in sibsLaurence Perrin, Odile Fenneteau, Brice Ilharreborde, et al.
European Journal of Medical Genetics|November 19, 2013
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new casesEssam Al Ageeli, Séverine Drunat, Catherine Delanoë, et al.
European Journal of Medical Genetics|July 6, 2010
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patientsManuel Schiff, Andrée Delahaye, Joris Andrieux, et al.
Human Genomics|November 26, 2025
Expanding the phenotype associated with biallelic SCNM1 variantsAsier Iturrate, Frédéric Tran-Mau Them, Alain Verloes, et al.
Molecular Genetics and Metabolism|February 13, 2022
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activityDoreen Dobritzsch, Judith Meijer, Rutger Meinsma, et al.
European Journal of Neurology|April 23, 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndromeRocio Nur Villar-Quiles, Damien Sternberg, Grégoire Tredez, et al.
The EMBO Journal|June 3, 2020
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patientsMichele Bertacchi, Anna Lisa Romano, Agnès Loubat, et al.
Molecular Autism|April 7, 2015
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorderAnne-Claude Tabet, Alain Verloes, Marion Pilorge, et al.
Pageof 9

Showing results (21-30 of 81) with videos related to

Sort By:
Pageof 9
Frontiers in Pediatrics|July 12, 2021
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K SignalingNidia Moreno-Corona, Loïc Chentout, Lucie Poggi, et al.
Bulletin Du Cancer|January 24, 2024
[Suspicion of constitutional abnormality at diagnosis of childhood leukemia: Update of the leukemia committee of the French Society of Childhood Cancers]Marion Strullu, Elie Cousin, Sandrine de Montgolfier, et al.
European Journal of Medical Genetics|February 15, 2012
A new lysosomal storage disorder resembling Morquio syndrome in sibsLaurence Perrin, Odile Fenneteau, Brice Ilharreborde, et al.
European Journal of Medical Genetics|November 19, 2013
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new casesEssam Al Ageeli, Séverine Drunat, Catherine Delanoë, et al.
European Journal of Medical Genetics|July 6, 2010
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patientsManuel Schiff, Andrée Delahaye, Joris Andrieux, et al.
Human Genomics|November 26, 2025
Expanding the phenotype associated with biallelic SCNM1 variantsAsier Iturrate, Frédéric Tran-Mau Them, Alain Verloes, et al.
Molecular Genetics and Metabolism|February 13, 2022
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activityDoreen Dobritzsch, Judith Meijer, Rutger Meinsma, et al.
European Journal of Neurology|April 23, 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndromeRocio Nur Villar-Quiles, Damien Sternberg, Grégoire Tredez, et al.
The EMBO Journal|June 3, 2020
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patientsMichele Bertacchi, Anna Lisa Romano, Agnès Loubat, et al.
Molecular Autism|April 7, 2015
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorderAnne-Claude Tabet, Alain Verloes, Marion Pilorge, et al.
Pageof 9