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在“Elsevier电子期刊”中，命中：16条，耗时：小于0.01 秒

1.G贸mez-L贸pez-Hern谩ndez Syndrome in a Child Born to Consanguineous Parents: New Evidence for an Autosomal-Recessive Pattern of Inheritance?

作者：Vinicius Freitas de Mattos ; MD^a ; Carla Graziadio ; MD^a ; ^b ; Rafael Fabiano Machado Rosa ; PhD^a ; ^b ; ^c ; Rene Lenhardt ; MD^d ; Ronnie Peterson Marcondes Alves ; MD^d ; Patrí ; cia Trevisan ; MPharm^b ; Giorgio Adriano Paskulin ; PhD^a ; ^b ; Paulo Ricardo Gazzola Zen ; PhD^a ; ^b ; ^{paulozen@ufcspa.edu.br" class="auth_mail}

关键词：Gó ; mez-Ló ; pez-Herná ; ndez syndrome ; rhombencephalosynapsis ; alopecia ; craniosynostosis ; consanguinity ; cerebello-trigeminal-dermal dysplasia ; genetic counseling

刊名：Pediatric Neurology

出版年：June 2014

2.Cognitive outcome in children with rhombencephalosynapsis

作者：Andrea Poretti ; Fabienne Dietrich Alber ; Sarah Bü ; rki ; S ; ra P. Toelle ; Eugen Boltshauser

关键词：Rhombencephalosynapsis ; Cerebellum ; Ataxia ; Cognitive functions ; Behavioural problems ; Cerebellar cognitive affective syndrome

刊名：European Journal of Paediatric Neurology

出版年：2009

3.Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings

作者：Jalel Chemli ; Mejdi Abroug ; Kalthoum Tlili ; Abdelaziz Harbi

关键词：Cerebellar abnormalities ; Rhombencephalosynapsis ; Vermian agenesis ; Ataxia ; Hydrocephalus

刊名：European Journal of Paediatric Neurology

出版年：2007

4.Truncal Ataxia, Hypotonia, and Motor Delay With Isolated Rhombencephalosynapsis

作者：Michael C. Kruer ; Peter A. Blasco ; James C. Anderson ; Dianna M.E. Bardo ; Joseph D. Pinter

刊名：Pediatric Neurology

出版年：2009

5.Neuro-ophthalmologic findings in patients with rhombencephalosynapsis

作者：Paul H. Phillips ; Charles M. Glasier ; Michael C. Brodsky

刊名：Journal of American Association for Pediatric Ophthalmology and Strabismus

出版年：2008

6.Reduced vision as a presenting feature of rhombencephalosynapsis

作者：Malavika Subash ; Margaret Minasian

刊名：Journal of American Association for Pediatric Ophthalmology and Strabismus

出版年：2008

7.Gomez–Lopez-Hernandez syndrome: An easily missed diagnosis

作者：Andrea Poretti ; Deborah Bartholdi ; Sonja Gobara ; Fabienne Dietrich Alber ; Eugen Boltshauser

关键词：Cerebello-trigeminal-dermal dysplasia ; Cognitive function ; Parietal scalp alopecia ; Rhombencephalosynapsis ; Trigeminal anesthesia ; Neurogenic bladder ; Esophageal atresia

刊名：European Journal of Medical Genetics

出版年：2008

8.Posterior Fossa Malformations

作者：Karuna Shekdar

刊名：Seminars in Ultrasound, CT, and MRI

出版年：2011

9.Development of the Human Cerebellum and Its Disorders

作者：Hans J. ten Donkelaar ; MD ; PhD^a ; ^{h.tendonkelaar@neuro.umcn.nl} ; Martin Lammens ; MD ; PhD^b

关键词：Cerebellar development ; Pontocerebellar hypoplasia ; Joubert syndrome ; Dandy-Walker malformation ; Congenital disorders of glycosylation ; Rhombencephalosynapsis

刊名：Clinics in Perinatology

出版年：2009

10.Normal IQ in a 55-year-old with newly diagnosed rhombencephalosynapsis

作者：Bell ; Brian D. ; Stanko ; Heather A. ; Levine ; Ross L.

关键词：Cerebellum ; Rhombencephalon ; Neuropsychological tests ; Cognition disorders

刊名：Archives of Clinical Neuropsychology

出版年：2005

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