about
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.Personal utility in genomic testing: a systematic literature review.Defining personal utility in genomics: A Delphi study.Dynamic landscape and regulation of RNA editing in mammals.Genotype-phenotype correlations in individuals with pathogenic RERE variants.A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisA Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain AmyloidosisExtracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
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Q37518635-92ACFAE5-E063-474F-A56C-FCF4F344C938Q38745230-9AA196C3-8A1F-48C4-B8ED-C4C7BFF98E3DQ39144213-8B2CC810-EB14-44E7-A972-C215F01AE35FQ46288430-85A502BE-0EC2-4799-842E-93566A7E3A09Q47866259-00864FD5-4CC5-46E3-9F63-50C700DD5EC8Q64039577-F984D8C8-4F7E-4E08-A889-012C535E199BQ64120476-C584853F-77F3-463E-93D8-70938772D358Q92467675-77DE4551-5787-492C-B6D9-9FDC78948394Q92669528-FABE2D34-9BE2-4216-80A0-7B441D95E200
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description
researcher
@en
wetenschapper
@nl
name
Jennefer N Kohler
@en
Jennefer N Kohler
@nl
type
label
Jennefer N Kohler
@en
Jennefer N Kohler
@nl
prefLabel
Jennefer N Kohler
@en
Jennefer N Kohler
@nl
P31
P496
0000-0003-0830-3535