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Anne Goriely

Showing results (21-30 of 53) with videos related to

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American Journal of Medical Genetics. Part A|July 17, 2010
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromesAnne Goriely, Helen Lord, Jasmine Lim, et al.
The Journal of Pathology|July 13, 2005
Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential linkRuth M S Hansen, Anne Goriely, Steven A Wall, et al.
Bioinformatics (Oxford, England)|July 28, 2019
amplimap: a versatile tool to process and analyze targeted NGS dataNils Koelling, Marie Bernkopf, Eduardo Calpena, et al.
The Journal of Clinical Endocrinology and Metabolism|March 1, 2007
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblingsEmma L Edghill, Anna L Gloyn, Anne Goriely, et al.
Bioinformatics (Oxford, England)|February 27, 2020
amplimap: a versatile tool to process and analyze targeted NGS dataNils Koelling, Marie Bernkopf, Eduardo Calpena, et al.
Human Mutation|June 23, 2017
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism casesMarie Bernkopf, David Hunt, Nils Koelling, et al.
The Journal of Pathology|June 28, 2011
OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogoniaJasmine Lim, Anne Goriely, Gareth Dh Turner, et al.
Plos One|August 11, 2012
Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly menJasmine Lim, Geoffrey J Maher, Gareth D H Turner, et al.
Human Mutation|May 5, 2011
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and miceChristian Babbs, Helen S Stewart, Louise J Williams, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 21, 2005
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogoniaAnne Goriely, Gilean A T McVean, Ans M M van Pelt, et al.
Pageof 6

Showing results (21-30 of 53) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|July 17, 2010
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromesAnne Goriely, Helen Lord, Jasmine Lim, et al.
The Journal of Pathology|July 13, 2005
Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential linkRuth M S Hansen, Anne Goriely, Steven A Wall, et al.
Bioinformatics (Oxford, England)|July 28, 2019
amplimap: a versatile tool to process and analyze targeted NGS dataNils Koelling, Marie Bernkopf, Eduardo Calpena, et al.
The Journal of Clinical Endocrinology and Metabolism|March 1, 2007
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblingsEmma L Edghill, Anna L Gloyn, Anne Goriely, et al.
Bioinformatics (Oxford, England)|February 27, 2020
amplimap: a versatile tool to process and analyze targeted NGS dataNils Koelling, Marie Bernkopf, Eduardo Calpena, et al.
Human Mutation|June 23, 2017
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism casesMarie Bernkopf, David Hunt, Nils Koelling, et al.
The Journal of Pathology|June 28, 2011
OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogoniaJasmine Lim, Anne Goriely, Gareth Dh Turner, et al.
Plos One|August 11, 2012
Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly menJasmine Lim, Geoffrey J Maher, Gareth D H Turner, et al.
Human Mutation|May 5, 2011
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and miceChristian Babbs, Helen S Stewart, Louise J Williams, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 21, 2005
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogoniaAnne Goriely, Gilean A T McVean, Ans M M van Pelt, et al.
Pageof 6