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Anne Goriely

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

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American Journal of Human Genetics|May 11, 2006
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesStephen R F Twigg, Kazuya Matsumoto, Alexa M J Kidd, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 22, 2013
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germlineEleni Giannoulatou, Gilean McVean, Indira B Taylor, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
Blood|September 12, 2013
GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemiaIrene Roberts, Kate Alford, Georgina Hall, et al.
Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
American Journal of Medical Genetics. Part A|May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathwayDavid A Stevenson, Lisa Schill, Lisa Schoyer, et al.
American Journal of Human Genetics|July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and CraniosynostosisAimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
American Journal of Medical Genetics. Part A|March 16, 2026
The 9th International RASopathies SymposiumPau Castel, Lisa Schoyer, Beth Stronach, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Pageof 6

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

Sort By:
Pageof 6
American Journal of Human Genetics|May 11, 2006
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesStephen R F Twigg, Kazuya Matsumoto, Alexa M J Kidd, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 22, 2013
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germlineEleni Giannoulatou, Gilean McVean, Indira B Taylor, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
Blood|September 12, 2013
GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemiaIrene Roberts, Kate Alford, Georgina Hall, et al.
Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
American Journal of Medical Genetics. Part A|May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathwayDavid A Stevenson, Lisa Schill, Lisa Schoyer, et al.
American Journal of Human Genetics|July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and CraniosynostosisAimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
American Journal of Medical Genetics. Part A|March 16, 2026
The 9th International RASopathies SymposiumPau Castel, Lisa Schoyer, Beth Stronach, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Pageof 6