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A Metcalfe

Showing results (291-300 of 302) with videos related to

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International Journal of Cancer|January 16, 2008
International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriersKelly A Metcalfe, Daphna Birenbaum-Carmeli, Jan Lubinski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2012
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation studyYoshimi Inaba, Amy S Herlihy, Charles E Schwartz, et al.
Cancer|December 26, 2022
The risks of cancer in older women with BRCA pathogenic variants: How far have we come?Kelly A Metcalfe, Jacek Gronwald, Nadine M Tung, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 26, 2014
Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutationAmy P M Finch, Jan Lubinski, Pål Møller, et al.
Epilepsia|February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesJoseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.
American Journal of Human Genetics|November 27, 2020
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathyAndrew E Fry, Christopher Marra, Anna V Derrick, et al.
Science (New York, N.Y.)|July 28, 2018
LKB1 deficiency in T cells promotes the development of gastrointestinal polyposisM C Poffenberger, A Metcalfe-Roach, E Aguilar, et al.
Nature Genetics|October 4, 2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopiaLoïc Broix, Hélène Jagline, Ekaterina Ivanova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screeningSylvia A Metcalfe, Melissa Martyn, Alice Ames, et al.
American Journal of Human Genetics|December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable ImmunodeficiencyClare V Logan, Jennie E Murray, David A Parry, et al.
Pageof 31

Showing results (291-300 of 302) with videos related to

Sort By:
Pageof 31
International Journal of Cancer|January 16, 2008
International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriersKelly A Metcalfe, Daphna Birenbaum-Carmeli, Jan Lubinski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2012
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation studyYoshimi Inaba, Amy S Herlihy, Charles E Schwartz, et al.
Cancer|December 26, 2022
The risks of cancer in older women with BRCA pathogenic variants: How far have we come?Kelly A Metcalfe, Jacek Gronwald, Nadine M Tung, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 26, 2014
Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutationAmy P M Finch, Jan Lubinski, Pål Møller, et al.
Epilepsia|February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesJoseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.
American Journal of Human Genetics|November 27, 2020
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathyAndrew E Fry, Christopher Marra, Anna V Derrick, et al.
Science (New York, N.Y.)|July 28, 2018
LKB1 deficiency in T cells promotes the development of gastrointestinal polyposisM C Poffenberger, A Metcalfe-Roach, E Aguilar, et al.
Nature Genetics|October 4, 2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopiaLoïc Broix, Hélène Jagline, Ekaterina Ivanova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screeningSylvia A Metcalfe, Melissa Martyn, Alice Ames, et al.
American Journal of Human Genetics|December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable ImmunodeficiencyClare V Logan, Jennie E Murray, David A Parry, et al.
Pageof 31