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Eliane Beauregard-Lacroix

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Molecular Syndromology|September 8, 2017
Genetic Testing in a Cohort of Complex Esophageal AtresiaEliane Beauregard-Lacroix, Jessica Tardif, Emmanuelle Lemyre, et al.
Spine|November 24, 2016
Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic DiagnosesEliane Beauregard-Lacroix, Jessica Tardif, Maria Vittoria Camurri, et al.
European Journal of Human Genetics : EJHG|November 8, 2019
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GLEliane Beauregard-Lacroix, Smrithi Salian, Hyunyun Kim, et al.
American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2020
DOORS syndrome and a recurrent truncating ATP6V1B2 variantEliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Molecular Syndromology|September 8, 2017
Genetic Testing in a Cohort of Complex Esophageal AtresiaEliane Beauregard-Lacroix, Jessica Tardif, Emmanuelle Lemyre, et al.
Spine|November 24, 2016
Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic DiagnosesEliane Beauregard-Lacroix, Jessica Tardif, Maria Vittoria Camurri, et al.
European Journal of Human Genetics : EJHG|November 8, 2019
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GLEliane Beauregard-Lacroix, Smrithi Salian, Hyunyun Kim, et al.
American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2020
DOORS syndrome and a recurrent truncating ATP6V1B2 variantEliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Pageof 1