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A Bottani

Showing results (11-20 of 30) with videos related to

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American Journal of Medical Genetics|May 16, 1997
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patientsS Fokstuen, A Bottani, P F Medeiros, et al.
European Neurology|December 22, 1999
Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a familyA Kohler, P Burkhard, S Hefft, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 29, 2000
Early fatal pontocerebellar hypoplasia in premature twin sistersV Chaves-Vischer, G P Pizzolato, S Hanquinet, et al.
Journal of Medical Genetics|January 1, 1991
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomaliesC Braegger, A Bottani, F Hallé, et al.
American Journal of Medical Genetics|April 14, 1997
Mitochondrial anomalies in a Swiss family with autosomal dominant myoglobinuriaR C Martin-Du Pan, M A Morris, H Favre, et al.
American Journal of Human Genetics|December 1, 1991
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patientsW P Robinson, A Bottani, Y G Xie, et al.
Clinical Genetics|March 19, 2010
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic featuresP Makrythanasis, I Moix, S Gimelli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 18, 2015
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?S Garcia-Tarodo, A Bottani, L Merlini, et al.
Nature|April 24, 1997
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsyM D Lalioti, H S Scott, C Buresi, et al.
American Journal of Medical Genetics|May 15, 1994
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?A Bottani, W P Robinson, C D DeLozier-Blanchet, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics|May 16, 1997
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patientsS Fokstuen, A Bottani, P F Medeiros, et al.
European Neurology|December 22, 1999
Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a familyA Kohler, P Burkhard, S Hefft, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 29, 2000
Early fatal pontocerebellar hypoplasia in premature twin sistersV Chaves-Vischer, G P Pizzolato, S Hanquinet, et al.
Journal of Medical Genetics|January 1, 1991
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomaliesC Braegger, A Bottani, F Hallé, et al.
American Journal of Medical Genetics|April 14, 1997
Mitochondrial anomalies in a Swiss family with autosomal dominant myoglobinuriaR C Martin-Du Pan, M A Morris, H Favre, et al.
American Journal of Human Genetics|December 1, 1991
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patientsW P Robinson, A Bottani, Y G Xie, et al.
Clinical Genetics|March 19, 2010
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic featuresP Makrythanasis, I Moix, S Gimelli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 18, 2015
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?S Garcia-Tarodo, A Bottani, L Merlini, et al.
Nature|April 24, 1997
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsyM D Lalioti, H S Scott, C Buresi, et al.
American Journal of Medical Genetics|May 15, 1994
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?A Bottani, W P Robinson, C D DeLozier-Blanchet, et al.
Pageof 3