Zobrazeno 1 - 5
of 5
pro vyhledávání: '"XXY (aneuploidy of klinefelter syndrome)"'
Autor:
Sophia Q. Song, Andrea Gropman, Robert W. Benjamin, Francie Mitchell, Michaela R. Brooks, Mary P. Hamzik, Kira Sampson, Ritika Kommareddi, Teresa Sadeghin, Carole A. Samango-Sprouse
Publikováno v:
Frontiers in Genetics, Vol 12 (2022)
Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase defici
Externí odkaz:
https://doaj.org/article/052e3e09f55845b3aa15aa9dfa52ee8c
Akademický článek
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Autor:
Ali Al Kaissi MD, MSc, Sergey Ryabykh MD, Polina Ochirova MD, Vladimir Kenis MD, Jochen G. Hofstätter MD, Franz Grill MD, Rudolf Ganger MD, PhD, Susanne Gerit Kircher MD, MSc
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 5 (2017)
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department b
Externí odkaz:
https://doaj.org/article/ea59fe76f9f5403b8caffacf493fcc46
Autor:
Al Kaissi, Ali, Ryabykh, Sergey, Ochirova, Polina, Kenis, Vladimir, Hofstätter, Jochen G., Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports; Jan2017, Vol. 5 Issue 1, p1-6, 6p
Autor:
Gale
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