Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Lauren Grote"'
Autor:
Kevin Ginn, Shivarajan Manickavasagam Amudhavalli, Binu Porath, Linda D. Cooley, Sana Farooki, Midhat S. Farooqi, Lauren Grote, Melissa Gener
Publikováno v:
Clinical Genetics. 97:670-671
Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42d02ed065b4c84c0256bc749a568bd1
https://doi.org/10.1111/cge.13681
https://doi.org/10.1111/cge.13681
Autor:
Binu Porath, Lauren Grote, Linda D. Cooley, Kevin Ginn, Melissa Gener, Shivarajan M. Amudhavalli, Midhat S. Farooqi, Sana Farooki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0203f1c58decca66f8decd7b5c201e9
https://doi.org/10.1111/cge.13681/v2/response1
https://doi.org/10.1111/cge.13681/v2/response1
Autor:
Raymond Caylor, Carol J Saunders, Isabelle Thiffault, Kimberly A. Horii, Emily Fleming, Amy J. Nopper, Shivarajan M. Amudhavalli, Mohammed Ilyas, Holly I Welsh, Lauren Grote, Janda L Jenkins, Ahmed Abdelmoity, Emily G. Farrow, Sarah E Soden, Laurel K. Willig, Kendra Engleman
Publikováno v:
Neurogenetics. 19(3)
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by lesions and benign tumors in multiple organ systems including the brain, skin, heart, eyes, kidneys, and lungs. The phenotype is highly variable, altho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ca04fa81a78e636f8d427cbebb827ab
https://pubmed.ncbi.nlm.nih.gov/29992365
https://pubmed.ncbi.nlm.nih.gov/29992365
Autor:
Janda L Jenkins, Ahmed Abdelmoity, Laurel K. Willig, Lauren Grote, Amy J. Nopper, Emily G. Farrow, Emily Fleming, Holly I Welsh, Sarah E Soden, Isabelle Thiffault, Kimberly A. Horii, Carol J Saunders, Shivarajan M. Amudhavalli, Kendra Engleman, Mohammed Ilyas, Raymond Caylor
Publikováno v:
neurogenetics. 19:261-262
The published online version contain mistake in the author list. Instead of "A.M.Ilyas" it should have been "M.Ilyas ".
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bccff3a960990dbed37f3c0f77a186e
https://doi.org/10.1007/s10048-018-0554-8
https://doi.org/10.1007/s10048-018-0554-8
Publikováno v:
Genetics in Medicine. 14:971-976
Single-nucleotide polymorphism (SNP) microarrays are capable of detecting regions of homozygosity (ROH) that can suggest parental consanguinity or incest. This study was designed to describe the variable reporting practices of clinical laboratories i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45a0b0ad11b4ad5f71ba5588956c830
https://doi.org/10.1038/gim.2012.83
https://doi.org/10.1038/gim.2012.83
Autor:
Carol J Saunders, Isabelle Thiffault, Neil A. Miller, Melanie H. Cobb, Kenneth S. Eum, David J. Speca, Daniel C. Austin, Jon T. Sack, Lauren Grote, James S. Trimmer, Emily G. Farrow, Nicole P. Safina, Stephen F. Kingsmore, Sarah E Soden
Publikováno v:
The Journal of General Physiology
The Journal of general physiology, vol 146, iss 5
The Journal of general physiology, vol 146, iss 5
A missense mutation in the pore-forming α subunit of a delayed rectifier Kv channel is associated with epileptic encephalopathy, alters the cation selectivity of voltage-gated currents, and disrupts channel expression and localization.
The epil
The epil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acf7c55a0da6c323c36382e48542d347
https://pubmed.ncbi.nlm.nih.gov/26503721
https://pubmed.ncbi.nlm.nih.gov/26503721
Autor:
Cameron Thomas, Lauren Grote, Carlos E. Prada, Anna L. Mitchell, Kristen L. Sund, Lisa J. Martin, Teresa A. Smolarek, Liming Bao, Sarah L. Zimmerman
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 15(1)
The purpose of this study was to document the ability of single-nucleotide polymorphism microarray to identify copy-neutral regions of homozygosity, demonstrate clinical utility of regions of homozygosity, and discuss ethical/legal implications when
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7243d758f322cc0e8ab15112c9fa31c3
https://pubmed.ncbi.nlm.nih.gov/22858719
https://pubmed.ncbi.nlm.nih.gov/22858719