Search Results - "Mouden, Charlotte"
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DiscoSnp-RAD: de novo detection of small variants for RAD-Seq population genomics
Published in PeerJ (San Francisco, CA) (10-06-2020)“…Restriction site Associated DNA Sequencing (RAD-Seq) is a technique characterized by the sequencing of specific loci along the genome that is widely employed…”
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Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings
Published in PloS one (06-02-2015)“…Holoprosencephaly (HPE) is a frequent congenital malformation of the brain characterized by impaired forebrain cleavage and midline facial anomalies…”
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Genome Engineering of the Fast-Growing Mycoplasma feriruminatoris toward a Live Vaccine Chassis
Published in ACS synthetic biology (20-05-2022)“…Development of a new generation of vaccines is a key challenge for the control of infectious diseases affecting both humans and animals. Synthetic biology…”
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Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway
Published in Human mutation (01-12-2016)“…ABSTRACT Holoprosencephaly (HPE) is the most common congenital cerebral malformation in humans, characterized by impaired forebrain cleavage and midline facial…”
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Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing
Published in Clinical genetics (01-06-2016)“…Holoprosencephaly (HPE) is the most common congenital cerebral malformation, characterized by impaired forebrain cleavage and midline facial anomalies…”
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An easy and robust method for isolation and validation of single-nucleotide polymorphic markers from a first Erysiphe alphitoides draft genome
Published in Mycological progress (01-06-2020)“…Isolating genetic markers is often costly and time-consuming for non-model fungal species. However, these markers are of primary importance to identify the…”
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Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway: HUMAN MUTATION
Published in Human mutation (01-12-2016)Get full text
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Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings: e0117418
Published in PloS one (01-02-2015)“…Holoprosencephaly (HPE) is a frequent congenital malformation of the brain characterized by impaired forebrain cleavage and midline facial anomalies…”
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