Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Kristen L. Deak"'
Autor:
Benjamin T. Cocanougher, Samuel W. Liu, Ludmila Francescatto, Alexander Behura, Mariele Anneling, David G. Jackson, Kristen L. Deak, Chi D. Hornik, Mai K. ElMallah, Carolyn E. Pizoli, Edward C. Smith, Khoon Ghee Queenie Tan, Marie T. McDonald
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100288- (2024)
Summary: Biallelic loss-of-function variants in the MUSK gene result in two allelic disorders: (1) congenital myasthenic syndrome (CMS; OMIM: 616325), a neuromuscular disorder that has a range of severity from severe neonatal-onset weakness to mild a
Externí odkaz:
https://doaj.org/article/62fbd441e8164dd983e840f993fde9d1
Autor:
Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has n
Externí odkaz:
https://doaj.org/article/06de2e3b5f9244b89cae6954ab35c034
Autor:
Ghada Hijazi, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie L. Austin, Surekha Pendyal, Areeg El-Gharbawy, Kristen L. Deak, Andrew J. Muir, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100821- (2021)
Introduction: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in pat
Externí odkaz:
https://doaj.org/article/4e0ccde04a5d4a4db4785200b06ae36a
Publikováno v:
Hematological Oncology. 39:254-257
Autor:
Marwan K. Tayeh, Gordana Raca, Marwan Shinawi, Daniela del Gaudio, Caroline Astbury, Kristen L. Deak
Publikováno v:
Genetics in Medicine. 22:1133-1141
Autor:
Jason L. Williams, Bryce A. Seifert, Catherine Rehder, Marie T. McDonald, Michael J Campbell, Kristen L. Deak
Publikováno v:
J Pediatr Genet
Cat eye syndrome (CES) is a rare genetic defect, characterized by iris colobomas, preauricular skin tags, and anal malformations. Affecting 1 in 150,000 people, this defect is caused by duplication or triplication of the proximal long (q) arm of chro
Publikováno v:
American Journal of Surgical Pathology. 43:1397-1402
Granular cell tumors are lesions of Schwannian phenotype that most frequently arise in the skin, breast, and tongue. Pulmonary granular cell tumors (pGCTs) are exceedingly rare and only a handful of cases worldwide have been reported as malignant. We
Autor:
Kristen L. Deak, Abed Alhalim Aljamal, Michael B. Datto, John B. Mantyh, David S. Hsu, Erdem Altunel, Wayne Glover, John H. Strickler, Shannon J. McCall
Publikováno v:
JCO Precision Oncology. :1-7
Autor:
Hayk Barseghyan, Heidi Cope, Nicole M. Walley, Vandana Shashi, Catherine Rehder, Surajit Bhattacharya, Cherisse A. Marcou, Nicole L. Hoppman, Kristen L. Deak, Anna Alkelai, Yulong Fu, Eric Vilain
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
Background Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed
Autor:
Anna K. Paschall, Kristen L. Deak, Ghada Hijazi, Areeg El-Gharbawy, Brian Smith, Surekha Pendyal, Stephanie Austin, Priya S. Kishnani, Sarah P. Young, Tracy Boggs, Andrew J. Muir, Laura E. Case, Sathya Amarasekara
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100821-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Introduction A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in pati