European Journal of Medical Genetics

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IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association
European Journal of Medical Genetics - Tập 63 - Trang 104073 - 2020
Santiago Montolío-Marzo, Jaume Català-Mora, Álvaro Madrid-Aris, Judith Armstrong, Jesús Díaz-Carcajosa, Elisa Carreras
Infantile hydrocephalus: A review of epidemiology, classification and causes
European Journal of Medical Genetics - Tập 57 - Trang 359-368 - 2014
Hannah M. Tully, William B. Dobyns
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4
European Journal of Medical Genetics - Tập 56 - Trang 580-583 - 2013
Arnaud Molin, Guillaume Benoist, Corinne Jeanne-Pasquier, Nadia Elkartoufi, Julie Litzer, Matthieu Decamp, Nicolas Gruchy, Marion Durand-Malbruny, Marianne Begorre, Tania Attie-Bitach, Nathalie Leporrier
Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management
European Journal of Medical Genetics - Tập 63 - Trang 103785 - 2020
Lara Menzies, Felice D'Arco, Vijeya Ganesan, Jane A. Hurst
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria
European Journal of Medical Genetics - Tập 61 - Trang 307-311 - 2018
Ruqaiah AlTassan, Dalal Bubshait, Faiqa Imtiaz, Zuhair Rahbeeni
Mesiodens
European Journal of Medical Genetics - Tập 51 - Trang 178-181 - 2008
Griet Van Buggenhout, Isabelle Bailleul-Forestier
Care for patients with ultra-rare disorders
European Journal of Medical Genetics - Tập 54 - Trang 220-224 - 2011
Raoul CM. Hennekam
Genetics of developmental dysplasia of the hip
European Journal of Medical Genetics - Tập 63 Số 9 - Trang 103990 - 2020
Osteogenesis imperfecta type I: The role of deep phenotyping in a patient with a ruptured uterus
European Journal of Medical Genetics - Tập 63 - Trang 104095 - 2020
Melody Grace Redman, Bart E. Wagner, Meena Balasubramanian
WITHDRAWN: A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression
European Journal of Medical Genetics - - 2015
Xin-Yu Chen, Si-Yu Zhao, Yan Wang, Dong Wang, Chang-Hu Dong, Ying Yang, Zhi-Hua Wang, Yuan-Ming Wu
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