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Patrice Bourgeois

Showing results (11-20 of 25) with videos related to

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American Journal of Medical Genetics. Part A|February 1, 2018
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two familiesAlexandre Fabre, Laetitia-Marie Petit, Lars F Hansen, et al.
Reproductive Biomedicine Online|September 9, 2017
Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patientsMarine Paci, Razan Elkhatib, Guy Longepied, et al.
Behavior Genetics|February 17, 2017
Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in MicePierre L Roubertoux, Nathalie Baril, Pierre Cau, et al.
Behavior Genetics|March 25, 2017
Erratum to: Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in MicePierre L Roubertoux, Nathalie Baril, Pierre Cau, et al.
Stroke|December 20, 2008
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic diseaseDimitri Renard, Genevieve Fourcade, Didier Milhaud, et al.
Cells|January 11, 2022
A Rare Mutation in <i>LMNB2</i> Associated with Lipodystrophy Drives Premature Cell SenescenceAlice-Anaïs Varlet, Camille Desgrouas, Cécile Jebane, et al.
Reproduction (Cambridge, England)|July 8, 2017
LEM-domain proteins are lost during human spermiogenesis but BAF and BAF-L persistRazan A Elkhatib, Marine Paci, Romain Boissier, et al.
The Journal of Investigative Dermatology|April 2, 2014
A new lamin a mutation associated with acrogeria syndromeSmail Hadj-Rabia, Jacob Mashiah, Patrice Roll, et al.
Cells|February 5, 2020
Unraveling <i>LMNA</i> Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical PitfallsCamille Desgrouas, Alice-Anaïs Varlet, Anne Dutour, et al.
Cells|April 28, 2016
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated CardiomyopathyDamien Galant, Bénédicte Gaborit, Camille Desgrouas, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|February 1, 2018
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two familiesAlexandre Fabre, Laetitia-Marie Petit, Lars F Hansen, et al.
Reproductive Biomedicine Online|September 9, 2017
Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patientsMarine Paci, Razan Elkhatib, Guy Longepied, et al.
Behavior Genetics|February 17, 2017
Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in MicePierre L Roubertoux, Nathalie Baril, Pierre Cau, et al.
Behavior Genetics|March 25, 2017
Erratum to: Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in MicePierre L Roubertoux, Nathalie Baril, Pierre Cau, et al.
Stroke|December 20, 2008
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic diseaseDimitri Renard, Genevieve Fourcade, Didier Milhaud, et al.
Cells|January 11, 2022
A Rare Mutation in <i>LMNB2</i> Associated with Lipodystrophy Drives Premature Cell SenescenceAlice-Anaïs Varlet, Camille Desgrouas, Cécile Jebane, et al.
Reproduction (Cambridge, England)|July 8, 2017
LEM-domain proteins are lost during human spermiogenesis but BAF and BAF-L persistRazan A Elkhatib, Marine Paci, Romain Boissier, et al.
The Journal of Investigative Dermatology|April 2, 2014
A new lamin a mutation associated with acrogeria syndromeSmail Hadj-Rabia, Jacob Mashiah, Patrice Roll, et al.
Cells|February 5, 2020
Unraveling <i>LMNA</i> Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical PitfallsCamille Desgrouas, Alice-Anaïs Varlet, Anne Dutour, et al.
Cells|April 28, 2016
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated CardiomyopathyDamien Galant, Bénédicte Gaborit, Camille Desgrouas, et al.
Pageof 3