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J BUNYAN

Showing results (41-50 of 62) with videos related to

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British Journal of Cancer|October 12, 2004
Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplificationD J Bunyan, D M Eccles, J Sillibourne, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delayM Balasubramanian, J P H Shield, C L Acerini, et al.
Genetic Testing|April 1, 2008
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCRHoa T Truong, Sara Solaymani-Kohal, Kevin R Baker, et al.
American Journal of Medical Genetics. Part A|December 2, 2017
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalitiesMark S Bateman, Morag N Collinson, David J Bunyan, et al.
European Journal of Human Genetics : EJHG|October 18, 2007
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGHJohn C K Barber, Viv K Maloney, Shuwen Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2020
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significanceHtoo A Wai, Jenny Lord, Matthew Lyon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 3, 2020
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significanceHtoo A Wai, Jenny Lord, Matthew Lyon, et al.
BMC Nephrology|November 1, 2018
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney diseaseChristine Gast, Anthony Marinaki, Monica Arenas-Hernandez, et al.
British Journal of Haematology|February 13, 2001
Cytogenetically cryptic AML1-ETO and CBF beta-MYH11 gene rearrangements: incidence in 412 cases of acute myeloid leukaemiaD Rowe, S J Cotterill, F M Ross, et al.
Human Genetics|January 13, 2006
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitusD J G Mackay, J M D Hahnemann, S E Boonen, et al.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
British Journal of Cancer|October 12, 2004
Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplificationD J Bunyan, D M Eccles, J Sillibourne, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delayM Balasubramanian, J P H Shield, C L Acerini, et al.
Genetic Testing|April 1, 2008
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCRHoa T Truong, Sara Solaymani-Kohal, Kevin R Baker, et al.
American Journal of Medical Genetics. Part A|December 2, 2017
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalitiesMark S Bateman, Morag N Collinson, David J Bunyan, et al.
European Journal of Human Genetics : EJHG|October 18, 2007
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGHJohn C K Barber, Viv K Maloney, Shuwen Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2020
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significanceHtoo A Wai, Jenny Lord, Matthew Lyon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 3, 2020
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significanceHtoo A Wai, Jenny Lord, Matthew Lyon, et al.
BMC Nephrology|November 1, 2018
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney diseaseChristine Gast, Anthony Marinaki, Monica Arenas-Hernandez, et al.
British Journal of Haematology|February 13, 2001
Cytogenetically cryptic AML1-ETO and CBF beta-MYH11 gene rearrangements: incidence in 412 cases of acute myeloid leukaemiaD Rowe, S J Cotterill, F M Ross, et al.
Human Genetics|January 13, 2006
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitusD J G Mackay, J M D Hahnemann, S E Boonen, et al.
Pageof 7