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Shelagh Joss

Showing results (11-20 of 78) with videos related to

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European Journal of Human Genetics : EJHG|April 21, 2011
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletionsSarah Vergult, Danijela Krgovic, Bart Loeys, et al.
Human Molecular Genetics|January 8, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domainRoman A Laskowski, Nidhi Tyagi, Diana Johnson, et al.
European Journal of Medical Genetics|April 27, 2018
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patientsGabriella Gazdagh, Moira Blyth, Ingrid Scurr, et al.
Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.
American Journal of Medical Genetics. Part A|June 26, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variantsCristina Peduto, Gerarda Cappuccio, Roberta Zeuli, et al.
Scientific Reports|September 2, 2022
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patientsNanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl, et al.
Clinical Genetics|March 15, 2020
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosisLine Aagaard Nolting, Charlotte Brasch-Andersen, Helen Cox, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 13, 2019
Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disabilityVeronica M Pravata, Villo Muha, Mehmet Gundogdu, et al.
American Journal of Medical Genetics. Part A|March 2, 2023
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrumKatharine Edgerley, Lisa Bryson, Lucy Hanington, et al.
Human Molecular Genetics|May 15, 2015
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowthChey Loveday, Katrina Tatton-Brown, Matthew Clarke, et al.
Pageof 8

Showing results (11-20 of 78) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|April 21, 2011
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletionsSarah Vergult, Danijela Krgovic, Bart Loeys, et al.
Human Molecular Genetics|January 8, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domainRoman A Laskowski, Nidhi Tyagi, Diana Johnson, et al.
European Journal of Medical Genetics|April 27, 2018
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patientsGabriella Gazdagh, Moira Blyth, Ingrid Scurr, et al.
Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.
American Journal of Medical Genetics. Part A|June 26, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variantsCristina Peduto, Gerarda Cappuccio, Roberta Zeuli, et al.
Scientific Reports|September 2, 2022
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patientsNanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl, et al.
Clinical Genetics|March 15, 2020
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosisLine Aagaard Nolting, Charlotte Brasch-Andersen, Helen Cox, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 13, 2019
Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disabilityVeronica M Pravata, Villo Muha, Mehmet Gundogdu, et al.
American Journal of Medical Genetics. Part A|March 2, 2023
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrumKatharine Edgerley, Lisa Bryson, Lucy Hanington, et al.
Human Molecular Genetics|May 15, 2015
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowthChey Loveday, Katrina Tatton-Brown, Matthew Clarke, et al.
Pageof 8