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Yline Capri

Showing results (71-80 of 93) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2021
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
European Journal of Human Genetics : EJHG|November 16, 2021
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital networkAnne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
The Journal of Clinical Endocrinology and Metabolism|February 9, 2020
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a NoseAngela Delaney, Rita Volochayev, Brooke Meader, et al.
Cancers|July 2, 2021
Severe Phenotype in Patients with Large Deletions of <i>NF1</i>Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, et al.
American Journal of Medical Genetics. Part A|February 1, 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesKevin E Glinton, Anna C E Hurst, Kevin M Bowling, et al.
Journal of Medical Genetics|June 7, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveSilvestre Cuinat, Chloé Quélin, Claire Effray, et al.
Pageof 10

Showing results (71-80 of 93) with videos related to

Sort By:
Pageof 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2021
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
European Journal of Human Genetics : EJHG|November 16, 2021
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital networkAnne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
The Journal of Clinical Endocrinology and Metabolism|February 9, 2020
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a NoseAngela Delaney, Rita Volochayev, Brooke Meader, et al.
Cancers|July 2, 2021
Severe Phenotype in Patients with Large Deletions of <i>NF1</i>Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, et al.
American Journal of Medical Genetics. Part A|February 1, 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesKevin E Glinton, Anna C E Hurst, Kevin M Bowling, et al.
Journal of Medical Genetics|June 7, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveSilvestre Cuinat, Chloé Quélin, Claire Effray, et al.
Pageof 10