Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Muge Gucsavas"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100132- (2023)
Externí odkaz:
https://doaj.org/article/b9cf153b9f14438ea01b542bca123563
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100249- (2023)
Externí odkaz:
https://doaj.org/article/6ef50f3462f545279e5da0ced4ec8f48
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100383- (2023)
Externí odkaz:
https://doaj.org/article/37b760a6fa454094aa250dab0c691aa2
Autor:
Cynthia M. Powell, Kathleen Wallace, Arthur S. Aylsworth, Natasha T. Strande, Laura V. Milko, Jonathan S. Berg, Myra I. Roche, Bradford C. Powell, Stephanie B. Crowley, Muge Gucsavas-Calikoglu, Dianne M. Frazier, Julianne M. O’Daniel, Daniela M. DeCristo, Lonna Mollison, Ann Katherine M. Foreman, Neeta L. Vora, Zahra S. Girnary, Lacey Boshe
Publikováno v:
J Pediatr
Objective To assess the performance of a standardized, age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening and compare it with the results from other contemporary methods. Study design The Nor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da96e7867c918d93f90b15bcb7dbd224
https://doi.org/10.1016/j.jpeds.2018.12.027
https://doi.org/10.1016/j.jpeds.2018.12.027
Autor:
Can Ficicioglu, Katie Coakley, Clara D.M. van Karnebeek, Markus Grompe, Melissa P. Wasserstein, Jeffrey M. Chinsky, Grant A. Mitchell, Muge Gucsavas-Calikoglu, Susan E. Waisbren, C. Ronald Scott, Rani H. Singh
Publikováno v:
Genetics in medicine, 19(12):1380. Lippincott Williams and Wilkins
Genetics in Medicine
Genetics in Medicine
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68c29bc84f63c953854f544679ccbc82
https://doi.org/10.1038/gim.2017.101
https://doi.org/10.1038/gim.2017.101
Publikováno v:
Molecular Genetics and Metabolism. 132:S78
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db37ae402e0b55892d4b7a088ba6aa6a
https://doi.org/10.1016/s1096-7192(21)00200-6
https://doi.org/10.1016/s1096-7192(21)00200-6
Akademický článek
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Autor:
Cynthia M. Powell, Laurie D. Smith, Alexandra Arreola, Natario L. Couser, Joseph Muenzer, Arti Pandya, Muge Gucsavas-Calikoglu, Daniel S. Marchuk, Kathleen Kaiser-Rogers
Publikováno v:
American journal of medical genetics. Part A. 173(10)
Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e3047e25066e0c65719949a078d51a
https://pubmed.ncbi.nlm.nih.gov/28749033
https://pubmed.ncbi.nlm.nih.gov/28749033
Autor:
Sarah P. Young, Antoine H. C. van Kampen, Aldo Jongejan, Frank Baas, Heleen te Brinke, Raoul C.M. Hennekam, Edward J. Bradley, Ronald J.A. Wanders, Simone Denis, Muge Gucsavas-Calikoglu, David S. Millington, Dianne M. Frazier, Sander M. Houten
Publikováno v:
Human molecular genetics, 23(18), 5009-5016. Oxford University Press
Human Molecular Genetics, 23(18), 5009-5016. Oxford University Press
Human Molecular Genetics, 23(18), 5009-5016. Oxford University Press
Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. The molecular basis of this condition is currently unknown. We describe a new case with failure to thri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ee2aca4bbd265bb25094cbae8769f0
https://hdl.handle.net/11245/1.429926
https://hdl.handle.net/11245/1.429926
Autor:
Christian Kranz, Arthur S. Aylsworth, Muge Gucsavas-Calikoglu, Frederick W. Henderson, Cynthia M. Powell, Alice Basinger, Hudson H. Freeze, Liangwu Sun
Publikováno v:
American Journal of Medical Genetics Part A. :1371-1378
In this report, we describe a brother and sister who presented at birth with short-limb skeletal dysplasia, polyhydramnios, prematurity, and generalized edema. Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22fceeda51fc1fe868d064346ce2678f
https://doi.org/10.1002/ajmg.a.31791
https://doi.org/10.1002/ajmg.a.31791