Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Faradz, Sultana MH"'
Autor:
Sihombing, Nydia Rena Benita, Winarni, Tri Indah, de Leeuw, Nicole, van Bon, Bregje, van Bokhoven, Hans, Faradz, Sultana MH
Publikováno v:
Intractable Rare Dis Res
Intellectual disability (ID) and multiple congenital anomalies (MCA) are major contributors to infant mortality, childhood morbidity, and long-term disability, with multifactorial aetiology including genetics. We aim to set a diagnostic approach for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8339e27855e2c52b0fb104b2ce9db2cb
https://europepmc.org/articles/PMC10242398/
https://europepmc.org/articles/PMC10242398/
Akademický článek
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Autor:
Yuniati, Renni, Hellmi, Rakhma Yanti, Dwijayanti, Gema Citra, Astuti, Meira Dewi Kusuma, Pals, Gerard, Micha, Dimitra, Faradz, Sultana MH
Publikováno v:
Case Reports in Dermatology; 2022, Vol. 14 Issue 3, p291-301, 11p
Publikováno v:
International Journal of Islamic Thought; Jun2022, Vol. 21, p46-53, 8p
Autor:
Tucker, Elena J., Bell, Katrina M., Robevska, Gorjana, van den Bergen, Jocelyn, Ayers, Katie L., Listyasari, Nurin, Faradz, Sultana MH, Dulon, Jérôme, Bakhshalizadeh, Shabnam, Sreenivasan, Rajini, Nouyou, Benedicte, Carre, Wilfrid, Akloul, Linda, Duros, Solène, Domin-Bernhard, Mathilde, Belaud-Rotureau, Marc-Antoine, Touraine, Philippe, Jaillard, Sylvie, Sinclair, Andrew H.
Publikováno v:
European Journal of Human Genetics: EJHG; February 2022, Vol. 30 Issue: 2 p219-228, 10p
Autor:
Listyasari, Nurin A., Robevska, Gorjana, Santosa, Ardy, Bouty, Aurore, Juniarto, AZ, van den Bergen, Jocelyn, Ayers, Katie L., Sinclair, Andrew H., Faradz, Sultana MH
Publikováno v:
Journal of Investigative Surgery; Feb2021, Vol. 34 Issue 2, p227-233, 7p
Autor:
Faradz, Sultana MH, Utari, Agustini, Ediati, Annastasia, Ariani, Mahayu Dewi, Juniarto, Achmad Zulfa
Simple virilizing congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by 21 hydroxylase deficiency leading to excessive androgen production. In infants with 46,XX karyotype, prenatal exposure of androgen overproducti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::e2cd1faf0ba3fb683bcbd6052dada173
https://europepmc.org/articles/PMC4563431/
https://europepmc.org/articles/PMC4563431/
Autor:
Muzar, Zukhrofi, Lozano, Reymundo, Schneider, Andrea, Adams, Patrick E, Faradz, Sultana MH, Tassone, Flora, Hagerman, Randi J
Publikováno v:
American journal of medical genetics. Part A, vol 167, iss 6
The fragile X-associated tremor ataxia syndrome (FXTAS) is caused by the premutation in FMR1 gene. Recent reports of environmental toxins appear to worsen the progression of FXTAS. Here we present a case of male adult with FXTAS and a long history of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::3ae4495eeca6e85973e3c1411c7849bf
https://escholarship.org/uc/item/6p8993sf
https://escholarship.org/uc/item/6p8993sf