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Showing results (791-800 of 885) with videos related to

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Clinical Genetics|June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephalyKévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
European Journal of Human Genetics : EJHG|November 13, 2008
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert Lyle, Frédérique Béna, Sarantis Gagos, et al.
Haematologica|January 19, 2019
Clinical and biological features in <i>PIEZO1</i>-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patientsVéronique Picard, Corinne Guitton, Isabelle Thuret, et al.
Human Mutation|June 24, 2019
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosisNicolas Chatron, Kevin Cassinari, Olivier Quenez, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.
European Journal of Human Genetics : EJHG|October 18, 2012
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patientsCamille Leroy, Emilie Landais, Sylvain Briault, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2024
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42NDLeila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
Pageof 89

Showing results (791-800 of 885) with videos related to

Sort By:
Pageof 89
Clinical Genetics|June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephalyKévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
European Journal of Human Genetics : EJHG|November 13, 2008
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert Lyle, Frédérique Béna, Sarantis Gagos, et al.
Haematologica|January 19, 2019
Clinical and biological features in <i>PIEZO1</i>-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patientsVéronique Picard, Corinne Guitton, Isabelle Thuret, et al.
Human Mutation|June 24, 2019
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosisNicolas Chatron, Kevin Cassinari, Olivier Quenez, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.
European Journal of Human Genetics : EJHG|October 18, 2012
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patientsCamille Leroy, Emilie Landais, Sylvain Briault, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2024
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42NDLeila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
Pageof 89