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pro vyhledávání: '"Molecular Genetic Abnormality"'
Akademický článek
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Publikováno v:
Clinical Lymphoma Myeloma and Leukemia. 21:S27-S29
Introduction In the 2017 World Health Organization (WHO) classification, chronic eosinophilic leukemia, not otherwise specified (CEL, NOS), is included as one of 7 distinct diagnostic entities under the major category of myeloproliferative neoplasms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f0531c1393d477540478e4d9c251c06
https://doi.org/10.1016/s2152-2650(21)01197-6
https://doi.org/10.1016/s2152-2650(21)01197-6
Autor:
Rachael Nixon, S Faisal Ahmed, Angela K Lucas-Herald, Christine Toka, Martyn Flett, Stuart O'Toole, Cunyi Wang, Fahad Al-Juraibah
Publikováno v:
Sexual Development. 13:67-73
Extra-genital congenital anomalies are often present in cases of hypospadias, but it is unclear whether they have an association with the outcome of hypospadias surgery. The aim of this study was to review all hypospadias cases that had surgery betwe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb9ec0d5be0526ad9135adb8ff3a85c
https://doi.org/10.1159/000497260
https://doi.org/10.1159/000497260
Autor:
Steen-Johnsen J, Martony A, Kiil R, Hansteen Il, Karen Helene Ørstavik, Suzanne B. Cassidy, Anvret M, Tangsrud Se, Niels Tommerup, Karen Brøndum-Nielsen
Publikováno v:
American Journal of Medical Genetics. 44:534-538
We report on a 12-year-old boy and his 7-year-old sister with the Prader-Willi syndrome. They both had severe initial hypotonia with feeding problems and later developed an increasing appetite. Both sibs have almond-shaped eyes, triangular mouth, hyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53c9b031cfbe0d10fc5379f164a9def8
https://doi.org/10.1002/ajmg.1320440431
https://doi.org/10.1002/ajmg.1320440431