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Emma McCann

Showing results (31-40 of 54) with videos related to

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Journal of Anatomy|May 17, 2024
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosisIsaac S Walton, Emma McCann, Astrid Weber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, et al.
Journal of Nephrology|January 29, 2025
Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney diseaseElhussein A E Elhassan, Darragh O'Donoghue, Sophia Heneghan, et al.
JCI Insight|October 22, 2016
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutationsIsabel Huang-Doran, Patsy Tomlinson, Felicity Payne, et al.
American Journal of Medical Genetics. Part A|May 3, 2008
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotypeMariëlle E M Swinkels, Annet Simons, Dominique F Smeets, et al.
Nature Genetics|June 18, 2013
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophyMichael N Weedon, Sian Ellard, Marc J Prindle, et al.
European Journal of Human Genetics : EJHG|September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new familiesVani Jain, Seow Hoong Foo, Stephen Chooi, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individualsAlison Foster, Anna Zachariou, Chey Loveday, et al.
American Journal of Human Genetics|November 13, 2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal NeurodevelopmentCatherine Rodger, Elisabetta Flex, Rachel J Allison, et al.
BMC Medical Genetics|April 27, 2016
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyAndrew E Fry, Elliott Rees, Rose Thompson, et al.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
Journal of Anatomy|May 17, 2024
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosisIsaac S Walton, Emma McCann, Astrid Weber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, et al.
Journal of Nephrology|January 29, 2025
Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney diseaseElhussein A E Elhassan, Darragh O'Donoghue, Sophia Heneghan, et al.
JCI Insight|October 22, 2016
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutationsIsabel Huang-Doran, Patsy Tomlinson, Felicity Payne, et al.
American Journal of Medical Genetics. Part A|May 3, 2008
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotypeMariëlle E M Swinkels, Annet Simons, Dominique F Smeets, et al.
Nature Genetics|June 18, 2013
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophyMichael N Weedon, Sian Ellard, Marc J Prindle, et al.
European Journal of Human Genetics : EJHG|September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new familiesVani Jain, Seow Hoong Foo, Stephen Chooi, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individualsAlison Foster, Anna Zachariou, Chey Loveday, et al.
American Journal of Human Genetics|November 13, 2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal NeurodevelopmentCatherine Rodger, Elisabetta Flex, Rachel J Allison, et al.
BMC Medical Genetics|April 27, 2016
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyAndrew E Fry, Elliott Rees, Rose Thompson, et al.
Pageof 6