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American Journal of Medical Genetics. Part A
|
October 1, 2020
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Michal M Andelman-Gur, Richard J Leventer, Mohammad Hujirat, et al.
Prenatal Diagnosis
|
April 28, 2023
Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry
Einav Kadour Peero, Nir Kugelman, Liat Gindes, et al.
American Journal of Medical Genetics. Part A
|
January 10, 2012
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Ghayda M Mirzaa, Robert L Conway, Karen W Gripp, et al.
Prenatal Diagnosis
|
April 12, 2020
Periventricular pseudocysts of noninfectious origin: Prenatal associated findings and prognostic factors
Michal Levy, Dorit Lev, Zvi Leibovitz, et al.
Neurology
|
March 31, 2015
Copy number variations in cryptogenic cerebral palsy
Reeval Segel, Hilla Ben-Pazi, Sharon Zeligson, et al.
Epilepsia
|
May 19, 2007
Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation
Cristina Gomez-Abad, Zaid Afawi, Amos D Korczyn, et al.
Molecular Genetics and Metabolism
|
January 20, 2007
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population
Ingrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Journal of Human Genetics
|
August 17, 2021
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
Michal Gafner, Marina Michelson, Emanuela Argilli, et al.
Human Mutation
|
April 9, 2017
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum
Francesca Pantaleoni, Dorit Lev, Ion C Cirstea, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 2, 2023
Utility of genetic testing in children with leukodystrophy
Ayelet Zerem, Stephanie Libzon, Liat Ben Sira, et al.
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of 18
Search research articles
Search
Showing results (121-130 of 176) with videos related to
Sort By:
Page
of 18
American Journal of Medical Genetics. Part A
|
October 1, 2020
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Michal M Andelman-Gur, Richard J Leventer, Mohammad Hujirat, et al.
Prenatal Diagnosis
|
April 28, 2023
Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry
Einav Kadour Peero, Nir Kugelman, Liat Gindes, et al.
American Journal of Medical Genetics. Part A
|
January 10, 2012
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Ghayda M Mirzaa, Robert L Conway, Karen W Gripp, et al.
Prenatal Diagnosis
|
April 12, 2020
Periventricular pseudocysts of noninfectious origin: Prenatal associated findings and prognostic factors
Michal Levy, Dorit Lev, Zvi Leibovitz, et al.
Neurology
|
March 31, 2015
Copy number variations in cryptogenic cerebral palsy
Reeval Segel, Hilla Ben-Pazi, Sharon Zeligson, et al.
Epilepsia
|
May 19, 2007
Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation
Cristina Gomez-Abad, Zaid Afawi, Amos D Korczyn, et al.
Molecular Genetics and Metabolism
|
January 20, 2007
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population
Ingrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Journal of Human Genetics
|
August 17, 2021
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
Michal Gafner, Marina Michelson, Emanuela Argilli, et al.
Human Mutation
|
April 9, 2017
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum
Francesca Pantaleoni, Dorit Lev, Ion C Cirstea, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 2, 2023
Utility of genetic testing in children with leukodystrophy
Ayelet Zerem, Stephanie Libzon, Liat Ben Sira, et al.
Page
of 18