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Showing results (41-50 of 46) with videos related to

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Human Molecular Genetics|July 7, 2001
Recombination hotspot in NF1 microdeletion patientsC López-Correa, M Dorschner, H Brems, et al.
Molecular and Cellular Probes|June 9, 2015
Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipelineM Granzow, N Paramasivam, K Hinderhofer, et al.
Clinical Genetics|February 6, 2013
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?M J M Nowaczyk, B A Thompson, S Zeesman, et al.
Neurology|September 23, 2009
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutationsS Passemard, L Titomanlio, M Elmaleh, et al.
American Journal of Human Genetics|December 12, 2000
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and IIIH J Lüdecke, J Schaper, P Meinecke, et al.
Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.
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Showing results (41-50 of 46) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 46 results.
Human Molecular Genetics|July 7, 2001
Recombination hotspot in NF1 microdeletion patientsC López-Correa, M Dorschner, H Brems, et al.
Molecular and Cellular Probes|June 9, 2015
Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipelineM Granzow, N Paramasivam, K Hinderhofer, et al.
Clinical Genetics|February 6, 2013
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?M J M Nowaczyk, B A Thompson, S Zeesman, et al.
Neurology|September 23, 2009
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutationsS Passemard, L Titomanlio, M Elmaleh, et al.
American Journal of Human Genetics|December 12, 2000
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and IIIH J Lüdecke, J Schaper, P Meinecke, et al.
Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.
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