The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2377
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome ; volume:14 ; number:1 ; day:31 ; month:1 ; year:2014 ; pages:1-6 ; date:12.2014
BMC neurology ; 14, Heft 1 (31.1.2014), 1-6, 12.2014
- Contributor
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McDonell, Laura M.
Warman Chardon, Jodi
Schwartzentruber, Jeremy
Foster, Denise
Beaulieu, Chandree L.
Majewski, Jacek
Bulman, Dennis E.
Boycott, Kym M.
SpringerLink (Online service)
- DOI
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10.1186/1471-2377-14-22
- URN
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urn:nbn:de:1111-2016030334851
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:22 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- McDonell, Laura M.
- Warman Chardon, Jodi
- Schwartzentruber, Jeremy
- Foster, Denise
- Beaulieu, Chandree L.
- Majewski, Jacek
- Bulman, Dennis E.
- Boycott, Kym M.
- SpringerLink (Online service)
Other Objects (12)
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Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer
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Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
The clinical utility of rapid exome sequencing in a consanguineous population
Different experiences of two PRRT2-associated self-limited familial infantile epilepsy
Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia
“Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy” with a novel mutation
Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer
Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
The clinical utility of rapid exome sequencing in a consanguineous population
Different experiences of two PRRT2-associated self-limited familial infantile epilepsy
Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia
“Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy” with a novel mutation
Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer
Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
The clinical utility of rapid exome sequencing in a consanguineous population
Different experiences of two PRRT2-associated self-limited familial infantile epilepsy