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Alice S Brooks

Showing results (41-50 of 62) with videos related to

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Human Mutation|June 22, 2022
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsGeeske M van Woerden, Richelle Senden, Charlotte de Konink, et al.
Frontiers in Pediatrics|July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesRomy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorderFrançois Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patientsCaroline Michot, Carine Le Goff, Clémentine Mahaut, et al.
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
European Journal of Human Genetics : EJHG|January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeMeena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
Plos One|May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformationsRomy van de Putte, Charlotte H W Wijers, Heiko Reutter, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
European Journal of Human Genetics : EJHG|July 29, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disordersDaphne J Smits, Christophe Debuy, Alice S Brooks, et al.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
Human Mutation|June 22, 2022
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsGeeske M van Woerden, Richelle Senden, Charlotte de Konink, et al.
Frontiers in Pediatrics|July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesRomy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorderFrançois Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patientsCaroline Michot, Carine Le Goff, Clémentine Mahaut, et al.
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
European Journal of Human Genetics : EJHG|January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeMeena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
Plos One|May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformationsRomy van de Putte, Charlotte H W Wijers, Heiko Reutter, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
European Journal of Human Genetics : EJHG|July 29, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disordersDaphne J Smits, Christophe Debuy, Alice S Brooks, et al.
Pageof 7