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Claude Besmond

Showing results (31-40 of 41) with videos related to

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EMBO Molecular Medicine|November 18, 2018
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiologyAthanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
HGG Advances|March 24, 2022
Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial diseaseKyle Thompson, Lucas Bianchi, Francesca Rastelli, et al.
Annals of Neurology|May 17, 2021
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and HypopituitarismAnne Schänzer, Melanie T Achleitner, Dietrich Trümbach, et al.
Brain : a Journal of Neurology|October 26, 2020
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterationsJorge Diaz, Xavier Gérard, Michel-Boris Emerit, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
American Journal of Human Genetics|March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesMingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
American Journal of Human Genetics|April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityElke Bogaert, Aurore Garde, Thierry Gautier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
EMBO Molecular Medicine|November 18, 2018
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiologyAthanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
HGG Advances|March 24, 2022
Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial diseaseKyle Thompson, Lucas Bianchi, Francesca Rastelli, et al.
Annals of Neurology|May 17, 2021
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and HypopituitarismAnne Schänzer, Melanie T Achleitner, Dietrich Trümbach, et al.
Brain : a Journal of Neurology|October 26, 2020
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterationsJorge Diaz, Xavier Gérard, Michel-Boris Emerit, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
American Journal of Human Genetics|March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesMingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
American Journal of Human Genetics|April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityElke Bogaert, Aurore Garde, Thierry Gautier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.
Pageof 5