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Robert Roger Lebel

Showing results (11-20 of 22) with videos related to

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Chest|February 23, 2013
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1Aaron Hamvas, Robin R Deterding, Susan E Wert, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, et al.
Clinical Genetics|November 1, 2020
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variantsEva Z Jacobs, Kathleen Brown, Melissa C Byler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2016
The complex behavioral phenotype of 15q13.3 microdeletion syndromeMark N Ziats, Robin P Goin-Kochel, Leandra N Berry, et al.
Nature Communications|February 22, 2024
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeElizabeth A Werren, Geneva R LaForce, Anshika Srivastava, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Chest|February 23, 2013
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1Aaron Hamvas, Robin R Deterding, Susan E Wert, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, et al.
Clinical Genetics|November 1, 2020
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variantsEva Z Jacobs, Kathleen Brown, Melissa C Byler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2016
The complex behavioral phenotype of 15q13.3 microdeletion syndromeMark N Ziats, Robin P Goin-Kochel, Leandra N Berry, et al.
Nature Communications|February 22, 2024
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeElizabeth A Werren, Geneva R LaForce, Anshika Srivastava, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Pageof 3