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Meredith Wilson

Showing results (41-50 of 68) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 29, 2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and childrenGemma R Brett, Melissa Martyn, Fiona Lynch, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
European Journal of Human Genetics : EJHG|December 24, 2009
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesAnna Hackett, Patrick S Tarpey, Andrea Licata, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseDimuthu Alankarage, Eddie Ip, Justin O Szot, et al.
Human Mutation|July 29, 2022
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorderBeau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 30, 2014
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autismGeert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Pageof 7

Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 29, 2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and childrenGemma R Brett, Melissa Martyn, Fiona Lynch, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
European Journal of Human Genetics : EJHG|December 24, 2009
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesAnna Hackett, Patrick S Tarpey, Andrea Licata, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseDimuthu Alankarage, Eddie Ip, Justin O Szot, et al.
Human Mutation|July 29, 2022
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorderBeau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 30, 2014
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autismGeert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Pageof 7