26 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    18
    1. megan_mayers 22 Jan 2020
      Arachnodactyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166

      ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:4 gene:NKAP
    2. megan_mayers 22 Jan 2020
      Joint laxity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:4 gene:NKAP
    3. megan_mayers 22 Jan 2020
      Slender limbs

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:4 gene:NKAP
    4. megan_mayers 22 Jan 2020
      Scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650

      ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:4 gene:NKAP
    5. megan_mayers 22 Jan 2020
      Tall stature

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098

      ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:4 gene:NKAP
    6. megan_mayers 22 Jan 2020
      aortic root dilatation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002616

      ClinGen hpoLookup monarchLookup HP:0002616 hpoLookup:individual individual:4 gene:NKAP
    7. megan_mayers 22 Jan 2020
      mitral regurgitation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653

      ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:individual individual:4 gene:NKAP
    8. megan_mayers 22 Jan 2020
      mitral valve prolapse

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001634

      ClinGen hpoLookup monarchLookup HP:0001634 hpoLookup:individual individual:4 gene:NKAP
    9. megan_mayers 22 Jan 2020
      large ears

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:4 gene:NKAP
    10. megan_mayers 22 Jan 2020
      Midface hypoplasia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:4 gene:NKAP
    11. megan_mayers 22 Jan 2020
      Open mouth appearance

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194

      ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:4 gene:NKAP
    12. megan_mayers 22 Jan 2020
      Short philtrum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:4 gene:NKAP
    13. megan_mayers 22 Jan 2020
      Long face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:4 gene:NKAP
    14. megan_mayers 22 Jan 2020
      Hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:4 gene:NKAP
    15. megan_mayers 22 Jan 2020
      aggressive behavior

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:4 gene:NKAP
    16. megan_mayers 22 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:4 gene:NKAP
    17. megan_mayers 22 Jan 2020
      Developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:NKAP
    18. megan_mayers 22 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300

      ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:4 gene:NKAP
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    sciencedirect.com/science/article/pii/S0002929719303489
  3. reg.clinicalgenome.org reg.clinicalgenome.org
    http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284
    1
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193709

      ClinGen alleleLookup allele:CA399193709 alleleLookup:individual individual:4 gene:TAOK1
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    4
    1. may_flowers 05 Jan 2020
      4

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002415

      ClinGen hpoLookup monarchLookup HP:0002415 hpoLookup:individual individual:4 gene:TAOK1
    2. may_flowers 05 Jan 2020
      seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:4 gene:TAOK1
    3. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:4 gene:TAOK1
    4. may_flowers 05 Jan 2020
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:TAOK1
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    sciencedirect.com/science/article/pii/S0002929719301910
  5. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301636
    2
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/

      ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
    2. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/

      ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
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    sciencedirect.com/science/article/pii/S0002929719301636
  6. Dec 2019
  7. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    1
    1. may_flowers 19 Dec 2019
      failure to thrive

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001508

      ClinGen hpoLookup monarchLookup HP:0001508 hpoLookup:individual individual:4 gene:NUP214
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    sciencedirect.com/science/article/pii/S0002929719301892