Zobrazeno 1 - 10
of 36
pro vyhledávání: '"beaulieu‐boycott‐innes syndrome (bbis)"'
Background: An autosomal recessive neurodevelopmental disorder known as Beaulieu Boycott Innes syndrome (BBIS). The patient can present with dysmorphic facial features (tall forehead,shortupslanting palpebral fissures, deep-set eyes, and a long nose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c3056c04189e4531e5b608969d4e181
Publikováno v:
Iranian Rehabilitation Journal, Vol 18, Iss 4, Pp 503-506 (2020)
Beaulieu-Boycott-Innes syndrome (BBIS), an autosomal recessive disorder, is characterized by dysmorphic facial features and developmental delay. In this case study, we used the age and stages questionnaire 2 (ASQ-2) to assess the developmental status
Externí odkaz:
https://doaj.org/article/1095b57c1a244e27842e90b292a5db0f
Autor:
Amouzadeh, Masoud Hassanvand1, Sepahi, Mohsen Akhavan2,3 akhavansepahim@yahoo.com, Abasi, Ezatollah4
Publikováno v:
Iranian Journal of Kidney Diseases. Jul2020, Vol. 14 Issue 4, p312-314. 3p.
Akademický článek
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Autor:
Ruaud, Lyse, Roux, Nathalie, Boutaud, Lucile, Bessières, Bettina, Ageorges, Faustine, Achaiaa, Amale, Bole, Christine, Nitschke, Patrick, Masson, Cécile, Vekemans, Michel, Verloes, Alain, Attie‐Bitach, Tania
Publikováno v:
Birth Defects Research; Jun2022, Vol. 114 Issue 10, p499-504, 6p
Publikováno v:
American Journal of Medical Genetics. Part A; May2022, Vol. 188 Issue 5, p1568-1571, 4p
Autor:
Accogli, Andrea, Scala, Marcello, Calcagno, Annalisa, Castello, Raffaele, Torella, Annalaura, Musacchia, Francesco, Allegri, Anna M. E., Mancardi, Maria M., Maghnie, Mohamad, Severino, Mariasavina, Nigro, Vincenzo, Capra, Valeria
Publikováno v:
American Journal of Medical Genetics. Part A; Dec2018, Vol. 176 Issue 12, p2835-2840, 6p
Autor:
Hassanvand Amouzadeh, Masoud (AUTHOR), Akhavan Sepahi, Mohsen1 (AUTHOR), Abasi, Ezatollah (AUTHOR)
Publikováno v:
Iranian Journal of Kidney Diseases. Jul2020, Vol. 14 Issue 4, p312-314. 3p.
Publikováno v:
Cogent Medicine. Jan 2021, Vol. 8 Issue 1, p1-184. 184p.
Autor:
Casey, Jillian, Jenkinson, Allan, Magee, Alex, Ennis, Sean, Monavari, Ahmad, Green, Andrew, Lynch, Sally A., Crushell, Ellen, Hughes, Joanne
Publikováno v:
Clinical Dysmorphology; October 2016, Vol. 25 Issue: 4 p146-151, 6p