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American Journal of Medical Genetics. Part A
|
October 28, 2010
Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia
Volker Endris, Karl Hackmann, Teresa M Neuhann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 5, 2003
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)
Ute Moog, Eric E J Smeets, Kees E P van Roozendaal, et al.
Frontiers in Physiology
|
March 13, 2019
The Frog <i>Xenopus</i> as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in <i>PIBF1</i>
Tim Ott, Lilian Kaufmann, Martin Granzow, et al.
Behavioral and Brain Functions : BBF
|
May 31, 2013
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
Inga Freunscht, Bernt Popp, Rainer Blank, et al.
Plos One
|
March 15, 2014
Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation
Jonathon Blake, Andrew Riddell, Susanne Theiss, et al.
European Journal of Human Genetics : EJHG
|
May 8, 2014
Genome-wide UPD screening in patients with intellectual disability
Christopher Schroeder, Arif Bülent Ekici, Ute Moog, et al.
Patient Education and Counseling
|
May 17, 2005
The decision evaluation scales
Peep F M Stalmeier, Marielle S Roosmalen, Lia C G Verhoef, et al.
American Journal of Medical Genetics. Part A
|
March 27, 2016
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy
Christina Evers, Lilian Kaufmann, Angelika Seitz, et al.
Journal of Child Neurology
|
December 29, 2012
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family
Thomas Opladen, Friedrich Ebinger, Johannes Zschocke, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2014
3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior
Nicola Dikow, Bianca Maas, Stephanie Karch, et al.
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of 8
Search research articles
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Showing results (41-50 of 79) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
October 28, 2010
Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia
Volker Endris, Karl Hackmann, Teresa M Neuhann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 5, 2003
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)
Ute Moog, Eric E J Smeets, Kees E P van Roozendaal, et al.
Frontiers in Physiology
|
March 13, 2019
The Frog <i>Xenopus</i> as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in <i>PIBF1</i>
Tim Ott, Lilian Kaufmann, Martin Granzow, et al.
Behavioral and Brain Functions : BBF
|
May 31, 2013
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
Inga Freunscht, Bernt Popp, Rainer Blank, et al.
Plos One
|
March 15, 2014
Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation
Jonathon Blake, Andrew Riddell, Susanne Theiss, et al.
European Journal of Human Genetics : EJHG
|
May 8, 2014
Genome-wide UPD screening in patients with intellectual disability
Christopher Schroeder, Arif Bülent Ekici, Ute Moog, et al.
Patient Education and Counseling
|
May 17, 2005
The decision evaluation scales
Peep F M Stalmeier, Marielle S Roosmalen, Lia C G Verhoef, et al.
American Journal of Medical Genetics. Part A
|
March 27, 2016
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy
Christina Evers, Lilian Kaufmann, Angelika Seitz, et al.
Journal of Child Neurology
|
December 29, 2012
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family
Thomas Opladen, Friedrich Ebinger, Johannes Zschocke, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2014
3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior
Nicola Dikow, Bianca Maas, Stephanie Karch, et al.
Page
of 8