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Devon Lamb Thrush

Showing results (1-10 of 17) with videos related to

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Case Reports in Endocrinology|January 24, 2014
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathySasigarn A Bowden, Corin Cozzi, Scott E Hickey, et al.
Journal of Genetic Counseling|January 10, 2020
Facing the challenge of genetic counselors' need for rapid continuing education about genomic technologiesKelly D Farwell Hagman, Devon Lamb Thrush, Samantha Freeze, et al.
European Journal of Medical Genetics|July 31, 2013
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletionScott E Hickey, Sawona Biswas, Devon Lamb Thrush, et al.
Molecular Genetics & Genomic Medicine|March 25, 2015
Variability in pathogenicity prediction programs: impact on clinical diagnosticsLauren C Walters-Sen, Sayaka Hashimoto, Devon Lamb Thrush, et al.
European Journal of Medical Genetics|July 17, 2013
A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocationScott E Hickey, Devon Lamb Thrush, Lauren Walters-Sen, et al.
European Journal of Medical Genetics|May 14, 2014
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasiaLauren C Walters-Sen, Devon Lamb Thrush, Scott E Hickey, et al.
Molecular Genetics & Genomic Medicine|March 23, 2019
Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approachTricia N Zion, Bess Wayburn, Sourat Darabi, et al.
European Journal of Medical Genetics|October 2, 2013
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensationRuthann B Pfau, Devon Lamb Thrush, Elizabeth Hamelberg, et al.
European Journal of Medical Genetics|March 25, 2018
Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variantElizabeth S Barrie, Yu Li, Devon Lamb-Thrush, et al.
American Journal of Medical Genetics. Part A|September 19, 2012
12q14 microdeletion associated with HMGA2 gene disruption and growth restrictionFadel Alyaqoub, Robert E Pyatt, Andrea Bailes, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
Case Reports in Endocrinology|January 24, 2014
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathySasigarn A Bowden, Corin Cozzi, Scott E Hickey, et al.
Journal of Genetic Counseling|January 10, 2020
Facing the challenge of genetic counselors' need for rapid continuing education about genomic technologiesKelly D Farwell Hagman, Devon Lamb Thrush, Samantha Freeze, et al.
European Journal of Medical Genetics|July 31, 2013
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletionScott E Hickey, Sawona Biswas, Devon Lamb Thrush, et al.
Molecular Genetics & Genomic Medicine|March 25, 2015
Variability in pathogenicity prediction programs: impact on clinical diagnosticsLauren C Walters-Sen, Sayaka Hashimoto, Devon Lamb Thrush, et al.
European Journal of Medical Genetics|July 17, 2013
A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocationScott E Hickey, Devon Lamb Thrush, Lauren Walters-Sen, et al.
European Journal of Medical Genetics|May 14, 2014
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasiaLauren C Walters-Sen, Devon Lamb Thrush, Scott E Hickey, et al.
Molecular Genetics & Genomic Medicine|March 23, 2019
Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approachTricia N Zion, Bess Wayburn, Sourat Darabi, et al.
European Journal of Medical Genetics|October 2, 2013
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensationRuthann B Pfau, Devon Lamb Thrush, Elizabeth Hamelberg, et al.
European Journal of Medical Genetics|March 25, 2018
Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variantElizabeth S Barrie, Yu Li, Devon Lamb-Thrush, et al.
American Journal of Medical Genetics. Part A|September 19, 2012
12q14 microdeletion associated with HMGA2 gene disruption and growth restrictionFadel Alyaqoub, Robert E Pyatt, Andrea Bailes, et al.
Pageof 2