المؤلفون: Samargia-Grivette S; Department of Communication Sciences and Disorders, University of Minnesota Duluth, Duluth, MN, USA., Hartley H; Department of Physical Therapy, Alder Hey Children's Hospital, Liverpool, UK., Walsh K; Department of Neuropsychology, National Children's Medical Center, Washington, DC, USA., Lemiere J; Department Oncology, Pediatric Oncology, KU Leuven, Leuven, Belgium.; Pediatric Hemato-Oncology, Universitair Ziekenhuis Leuven (UZ Leven), Leuven, Belgium., Payne AD; Department of Neuropsychology, National Children's Medical Center, Washington, DC, USA., Litke E; Department of Communication Sciences and Disorders, University of Minnesota Duluth, Duluth, MN, USA., Knight A; Department of Communication Sciences and Disorders, University of Minnesota Duluth, Duluth, MN, USA.

المصدر: Journal of pediatric rehabilitation medicine [J Pediatr Rehabil Med] 2024; Vol. 17 (2), pp. 185-197.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101490944 Publication Model: Print Cited Medium: Internet ISSN: 1875-8894 (Electronic) Linking ISSN: 18745393 NLM ISO Abbreviation: J Pediatr Rehabil Med Subsets: MEDLINE

مواضيع طبية MeSH: Mutism*/rehabilitation , Mutism*/etiology, Humans ; Child ; United States ; Cerebellar Diseases/rehabilitation ; Europe ; Canada ; Surveys and Questionnaires ; Male ; Female ; Occupational Therapy/methods ; Physical Therapy Modalities ; Infratentorial Neoplasms/surgery ; Infratentorial Neoplasms/rehabilitation ; Infratentorial Neoplasms/complications ; Speech-Language Pathology/methods

المؤلفون: Srour M; Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montreal, Quebec, Canada H3T 1C5., Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B, Rouleau GA, Majewski J, Michaud JL

مؤلفون مشاركون: FORGE Canada Consortium

المصدر: Journal of medical genetics [J Med Genet] 2012 Oct; Vol. 49 (10), pp. 636-41. Date of Electronic Publication: 2012 Sep 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Cerebellar Diseases/*genetics , Eye Abnormalities/*genetics , Kidney Diseases, Cystic/*genetics , Membrane Proteins/*genetics, Abnormalities, Multiple ; Adolescent ; Adult ; Amino Acid Sequence ; Brain/pathology ; Canada/ethnology ; Cerebellar Diseases/diagnosis ; Cerebellum/abnormalities ; Child ; Child, Preschool ; Exome ; Eye Abnormalities/diagnosis ; Female ; Gene Order ; Humans ; Infant ; Kidney Diseases, Cystic/diagnosis ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree ; Retina/abnormalities ; Sequence Alignment ; Young Adult

SCR Disease Name: Agenesis of Cerebellar Vermis

المؤلفون: Glass HC; Division of Neurology, Alberta Children's Hospital, Calgary, Alberta, Canada., Boycott KM, Adams C, Barlow K, Scott JN, Chudley AE, Fujiwara TM, Morgan K, Wirrell E, McLeod DR

المصدر: Developmental medicine and child neurology [Dev Med Child Neurol] 2005 Oct; Vol. 47 (10), pp. 691-5.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print Cited Medium: Print ISSN: 0012-1622 (Print) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Cerebellar Diseases/*genetics , Cerebellar Diseases/*pathology , Intellectual Disability/*etiology, Adolescent ; Adult ; Canada ; Cerebellar Ataxia/etiology ; Cerebellar Ataxia/genetics ; Cerebellar Ataxia/pathology ; Child ; Child Development Disorders, Pervasive/etiology ; Child Development Disorders, Pervasive/genetics ; Child Development Disorders, Pervasive/pathology ; Child, Preschool ; Female ; Germany/ethnology ; Humans ; Inheritance Patterns ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Retrospective Studies ; Syndrome

المؤلفون: Srour M; Centre of Excellence in Neurosciences, Université de Montréal and Sainte-Justine Hospital Research Center, Montréal, QC, Canada., Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V, Maranda B, Rouleau GA, Majewski J, Michaud JL

مؤلفون مشاركون: FORGE Canada Consortium

المصدر: American journal of human genetics [Am J Hum Genet] 2012 Apr 06; Vol. 90 (4), pp. 693-700. Date of Electronic Publication: 2012 Mar 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Cerebellar Diseases/*genetics , Eye Abnormalities/*genetics , Kidney Diseases, Cystic/*genetics , Membrane Proteins/*genetics, Abnormalities, Multiple ; Adult ; Base Sequence ; Canada ; Cerebellum/abnormalities ; Child ; Child, Preschool ; Exome ; Female ; Heterozygote ; Homozygote ; Humans ; Male ; Molecular Sequence Data ; Polymorphism, Single Nucleotide ; Retina/abnormalities

SCR Disease Name: Agenesis of Cerebellar Vermis