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Marilyn C Jones

Showing results (41-50 of 53) with videos related to

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European Journal of Human Genetics : EJHG|August 14, 2014
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utilityJia-Chi Wang, Leslie Ross, Loretta W Mahon, et al.
Journal of Immunology (Baltimore, Md. : 1950)|February 11, 2015
Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiencyBrigid S Boland, Christella E Widjaja, Asoka Banno, et al.
American Journal of Human Genetics|May 31, 2016
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones SyndromeStephen R F Twigg, Robert B Hufnagel, Kerry A Miller, et al.
American Journal of Human Genetics|December 30, 2019
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital MalformationsJoel J Hughes, Ebba Alkhunaizi, Paul Kruszka, et al.
Human Mutation|February 1, 2012
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresAllen N Lamb, Jill A Rosenfeld, Nicholas J Neill, et al.
American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.
American Journal of Human Genetics|June 6, 2024
The impact of clinical genome sequencing in a global population with suspected rare genetic diseaseErin Thorpe, Taylor Williams, Chad Shaw, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
European Journal of Human Genetics : EJHG|August 14, 2014
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utilityJia-Chi Wang, Leslie Ross, Loretta W Mahon, et al.
Journal of Immunology (Baltimore, Md. : 1950)|February 11, 2015
Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiencyBrigid S Boland, Christella E Widjaja, Asoka Banno, et al.
American Journal of Human Genetics|May 31, 2016
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones SyndromeStephen R F Twigg, Robert B Hufnagel, Kerry A Miller, et al.
American Journal of Human Genetics|December 30, 2019
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital MalformationsJoel J Hughes, Ebba Alkhunaizi, Paul Kruszka, et al.
Human Mutation|February 1, 2012
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresAllen N Lamb, Jill A Rosenfeld, Nicholas J Neill, et al.
American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.
American Journal of Human Genetics|June 6, 2024
The impact of clinical genome sequencing in a global population with suspected rare genetic diseaseErin Thorpe, Taylor Williams, Chad Shaw, et al.
Pageof 6