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Rebecca S Tooze

Showing results (1-10 of 10) with videos related to

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Journal of Medical Genetics|December 21, 2022
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of <i>SPRY1</i> (sprouty homolog 1) functionRebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, et al.
Genes|March 29, 2023
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene PanelsRebecca S Tooze, Eduardo Calpena, Astrid Weber, et al.
European Journal of Human Genetics : EJHG|March 3, 2025
BCL11B-related disease: a single phenotypic entity?J Heather Vedovato-Dos-Santos, Rebecca S Tooze, Sivagamy Sithambaram, et al.
European Journal of Human Genetics : EJHG|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patientsLaura M Watts, Marta Bertoli, Tania Attie-Bitach, et al.
Journal of Medical Genetics|January 31, 2024
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndromeKerry A Miller, David A Cruz Walma, Daniel M Pinkas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2022
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assayMargaret F Lippincott, Wanxue Xu, Abigail A Smith, et al.
Genetics in Medicine Open|June 16, 2025
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humansAkiko Soneda Hashimoto, Jianshi Yu, Christina Williams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2026
Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisLaura M Watts, Michelle S M Chang, Elizabeth Lewis-Orr, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Journal of Medical Genetics|December 21, 2022
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of <i>SPRY1</i> (sprouty homolog 1) functionRebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, et al.
Genes|March 29, 2023
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene PanelsRebecca S Tooze, Eduardo Calpena, Astrid Weber, et al.
European Journal of Human Genetics : EJHG|March 3, 2025
BCL11B-related disease: a single phenotypic entity?J Heather Vedovato-Dos-Santos, Rebecca S Tooze, Sivagamy Sithambaram, et al.
European Journal of Human Genetics : EJHG|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patientsLaura M Watts, Marta Bertoli, Tania Attie-Bitach, et al.
Journal of Medical Genetics|January 31, 2024
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndromeKerry A Miller, David A Cruz Walma, Daniel M Pinkas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2022
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assayMargaret F Lippincott, Wanxue Xu, Abigail A Smith, et al.
Genetics in Medicine Open|June 16, 2025
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humansAkiko Soneda Hashimoto, Jianshi Yu, Christina Williams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2026
Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisLaura M Watts, Michelle S M Chang, Elizabeth Lewis-Orr, et al.
Pageof 1