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pro vyhledávání: '"I M, Mazen"'
Autor:
H H, Afifi, M O, El-Ruby, H T, El-Bassyouni, S I, Ismail, M S, Aglan, A A, El-Harouni, I M, Mazen, M S, Zaki, R I, Bassiouni, L A, Hosny, G Y, El-Kamah, A I, El-Kotoury, A M, Ashour, G M, Abdel-Salam, M A, El-Gammal, K, Hamed, R M, Kamal, I, El-Nekhely, S A, Temtamy
Publikováno v:
Bratislavske lekarske listy. 111(2)
This study presents the prevalence, relative frequency, and analysis of genetic diseases/malformations in 73260 individuals. Cases included were ascertained from: Pediatric outpatient clinics of two governmental hospitals and two primary health care
Publikováno v:
Genetic counseling (Geneva, Switzerland). 16(1)
Ellis-van Creveld (EVC) syndrome (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth. Oral ma