Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Karine Hovanes"'
Autor:
Trilochan Sahoo, Stephen Wicks, Jen Hauenstein, Anusha Mylavarapu, Beth Matthews, Jenna Finley, Meena Naik, Marissa Younan, Karine Hovanes, Sachin Jadhav
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101514- (2024)
Externí odkaz:
https://doaj.org/article/4f7d594e92ac4449ae9dab986f911c6b
Publikováno v:
Case Reports in Genetics, Vol 2024 (2024)
Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give rise to a variety of congenital abnormalities and cancer. Constitutional chromothripsis is a rare occurrence, reported in c
Externí odkaz:
https://doaj.org/article/57aeece3fa0245abb7b71a83e8f6556c
Autor:
Melissa Maisenbacher, Georgina Goldring, Katherine Howard, Russell Jelsema, India Bradley, Karine Hovanes, Wenbo Xu, Katrina Merrion
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100574- (2023)
Externí odkaz:
https://doaj.org/article/ac830f837e4f4d8b9c6576515c79c44d
Autor:
Jeannie Klavanian, Kenzie Wood, Maija Sands, Melda Balcioglu, Kendra Vilfort, Jessica Adsit, Christie Buchovecky, Karine Hovanes, Jeffrey Meltzer, Katrina Merrion, Nina Wemmer
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100603- (2023)
Externí odkaz:
https://doaj.org/article/789b8a7ba6c24f6290e6c2fb38ba0637
Autor:
Katrina Merrion, Jessica Adsit, Katherine Howard, Carrie Chou, Jeffrey Meltzer, Christie Buchovecky, Karine Hovanes
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100675- (2023)
Externí odkaz:
https://doaj.org/article/77cde9c538a34616a4aea23ba5e28bd1
Autor:
Jennifer Lemoine, Cindy Trotter, Katrina Merrion, Melissa Maisenbacher, Russell Jelsema, Karine Hovanes, Wenbo Xu
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100676- (2023)
Externí odkaz:
https://doaj.org/article/a694110cca8f49f4b4b97878eeaaed9e
Publikováno v:
Case Reports in Genetics, Vol 2015 (2015)
The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes, autism, and other developmental abnormalities resulting from deletions an
Externí odkaz:
https://doaj.org/article/1007a43c5ad0415b8c4658c771e9ab23
Publikováno v:
Neurobiology of Disease, Vol 18, Iss 2, Pp 314-322 (2005)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a recessively inherited disease characterized by early onset dementia associated with bone cysts. Our group has recently established the molecular background of P
Externí odkaz:
https://doaj.org/article/10d9984a7e8d4d90b7ce0d7e22b55da5
Publikováno v:
Obstetrics & Gynecology. 141:71S-71S
Publikováno v:
Fertility and Sterility. 118:e52-e53