Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Thomas Smol

Showing results (31-40 of 92) with videos related to

Pageof 10
Sort By:
Orphanet Journal of Rare Diseases|November 5, 2025
Frequency and characteristics of emphysema in adults with FLNA variants: a single-center studyArthur Michalski, Catherine Vincent-Delorme, Silvia Demoulin-Alexikova, et al.
European Journal of Medical Genetics|September 1, 2022
TRIT1 deficiency: Two novel patients with four novel variantsThomas Smol, Perrine Brunelle, Roseline Caumes, et al.
European Journal of Human Genetics : EJHG|October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
Frontiers in Genetics|February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from MaghrebLamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
Reproductive Biomedicine Online|September 24, 2023
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopyAngèle Boursier, Augustin Boudry, Valérie Mitchell, et al.
Human Mutation|April 15, 2021
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorderJudith Halewa, Sylviane Marouillat, Manon Dixneuf, et al.
Epilepsia|August 21, 2025
Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoformsJade Fauqueux, Laurence Chaton, Pierre Cleuziou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefrontClémence Vanlerberghe, Frédéric Frénois, Thomas Smol, et al.
Journal of Human Genetics|August 14, 2020
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classificationLena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, et al.
Human Mutation|September 11, 2019
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformationsAnne-Sophie Jourdain, Florence Petit, Marie-Françoise Odou, et al.
Pageof 10

Showing results (31-40 of 92) with videos related to

Sort By:
Pageof 10
Orphanet Journal of Rare Diseases|November 5, 2025
Frequency and characteristics of emphysema in adults with FLNA variants: a single-center studyArthur Michalski, Catherine Vincent-Delorme, Silvia Demoulin-Alexikova, et al.
European Journal of Medical Genetics|September 1, 2022
TRIT1 deficiency: Two novel patients with four novel variantsThomas Smol, Perrine Brunelle, Roseline Caumes, et al.
European Journal of Human Genetics : EJHG|October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
Frontiers in Genetics|February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from MaghrebLamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
Reproductive Biomedicine Online|September 24, 2023
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopyAngèle Boursier, Augustin Boudry, Valérie Mitchell, et al.
Human Mutation|April 15, 2021
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorderJudith Halewa, Sylviane Marouillat, Manon Dixneuf, et al.
Epilepsia|August 21, 2025
Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoformsJade Fauqueux, Laurence Chaton, Pierre Cleuziou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefrontClémence Vanlerberghe, Frédéric Frénois, Thomas Smol, et al.
Journal of Human Genetics|August 14, 2020
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classificationLena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, et al.
Human Mutation|September 11, 2019
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformationsAnne-Sophie Jourdain, Florence Petit, Marie-Françoise Odou, et al.
Pageof 10