Zobrazeno 1 - 10
of 290
pro vyhledávání: '"S, Aftimos"'
Autor:
Hong, Sa Deok1 (AUTHOR), Katuwal, Nar Bahadur1 (AUTHOR), Kang, Min Sil1 (AUTHOR), Ghosh, Mithun1 (AUTHOR), Park, Seong Min1 (AUTHOR), Kim, Tae Hoen2 (AUTHOR), Baek, Young Seok1,3 (AUTHOR), Lee, Seung Ryeol4 (AUTHOR) seung102@cha.ac.kr, Moon, Yong Wha5 (AUTHOR) seung102@cha.ac.kr
Publikováno v:
International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 21, p11733. 17p.
Autor:
Mukherjee, Attrayo1 (AUTHOR) attrayomukh@gmail.com, Bandyopadhyay, Debasish2,3 (AUTHOR) debasish.bandyopadhyay@utrgv.edu
Publikováno v:
Cancers. Oct2024, Vol. 16 Issue 20, p3517. 39p.
Autor:
Ferrari, Victoria1 (AUTHOR), Mograbi, Baharia2 (AUTHOR), Gal, Jocelyn3 (AUTHOR), Milano, Gérard4 (AUTHOR) gerard.milano@nice.unicancer.fr
Publikováno v:
International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 18, p9991. 10p.
Autor:
Tonni, Elena1 (AUTHOR) 325770@studenti.unimore.it, Oltrecolli, Marco1 (AUTHOR) 297143@studenti.unimore.it, Pirola, Marta1 (AUTHOR) 310546@studenti.unimore.it, Tchawa, Cyrielle1 (AUTHOR) 308106@studenti.unimore.it, Roccabruna, Sara1 (AUTHOR) 279224@studenti.unimore.it, D'Agostino, Elisa1 (AUTHOR) 297407@studenti.unimore.it, Matranga, Rossana1 (AUTHOR) 297415@studenti.unimore.it, Piombino, Claudia1 (AUTHOR) 256171@studenti.unimore.it, Pipitone, Stefania1 (AUTHOR) pipitone.stefania@aou.mo.it, Baldessari, Cinzia1 (AUTHOR) baldessari.cinzia@aou.mo.it, Bacchelli, Francesca2 (AUTHOR) francesca.bacchelli@unimore.it, Dominici, Massimo1,3 (AUTHOR) massimo.dominici@unimore.it, Sabbatini, Roberto1 (AUTHOR) sabbrob@unimore.it, Vitale, Maria Giuseppa1 (AUTHOR) vitale.mariagiuseppa@aou.mo.it
Publikováno v:
International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9696. 20p.
Autor:
Jean-Pierre Fryns, S Aftimos
Publikováno v:
Journal of Medical Genetics. 37:460-463
Editor—We present the clinical histories and physical findings in two unrelated, severely mentally retarded males, now 14 and 11 years old. Patient 1, a male, was born as the second and youngest child of healthy, unrelated Flemish parents with norm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f7846e5454250c1110ad06b3b01583
https://doi.org/10.1136/jmg.37.6.460
https://doi.org/10.1136/jmg.37.6.460
Autor:
Koh CHEE KEONG1,2, WAN ZAIN, Wan Zainira1,2 zainira@usm.my, ZAHARI, Zalina3 zalinazahari@unisza.edu.my, YAHYA, Maya Mazuwin1,2, MOHAMAD, Hussain4
Publikováno v:
Duzce Medical Journal. Aug2024, Vol. 26 Issue 2, p105-111. 7p.
Publikováno v:
Singapore medical journal. 52(7)
A five-year-old girl with global developmental delay and mild dysmorphic features was referred for karyotyping. Cytogenetic analysis identified an interstitial deletion in the approximate position of chromosome band 10q23.1. The patient's DNA was ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fdcfdbf7d705e117a21e56047063fab8
https://pubmed.ncbi.nlm.nih.gov/21808946
https://pubmed.ncbi.nlm.nih.gov/21808946
Publikováno v:
Genetics and molecular research : GMR. 9(3)
Sex reversal due to duplication of the Xp21 dosage-sensitive sex reversal locus results in XY females with gonadal dysgenesis. Pure Xp disomy (without a concurrent loss of genetic material) can occur by translocation or interstitial duplication. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f71a9e904cc4030e69685d6f66f6c79e
https://pubmed.ncbi.nlm.nih.gov/20845307
https://pubmed.ncbi.nlm.nih.gov/20845307
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 99(5)
13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6f2ec26eeeb48f3a7e2a3f4b5c62936
https://pubmed.ncbi.nlm.nih.gov/20105145
https://pubmed.ncbi.nlm.nih.gov/20105145
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