24 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    13
    1. megan_mayers 22 Jan 2020
      Joint laxity

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

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:5 gene:NKAP
    2. megan_mayers 22 Jan 2020
      Slender limbs

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

      ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:5 gene:NKAP
    3. megan_mayers 22 Jan 2020
      carinatum

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768

      ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:individual individual:5 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:5 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:5 gene:NKAP
    6. megan_mayers 22 Jan 2020
      large ears

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

      ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:5 gene:NKAP
    7. megan_mayers 22 Jan 2020
      Midface hypoplasia

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

      ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:5 gene:NKAP
    8. 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:5 gene:NKAP
    9. megan_mayers 22 Jan 2020
      Long face

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

      ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:5 gene:NKAP
    10. megan_mayers 22 Jan 2020
      aggressive behavior

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

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:5 gene:NKAP
    11. megan_mayers 22 Jan 2020
      intellectual disability

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

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:5 gene:NKAP
    12. megan_mayers 22 Jan 2020
      Developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:5 gene:NKAP
    13. 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:5 gene:NKAP
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    sciencedirect.com/science/article/pii/S0002929719303489
  3. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    11
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399196709

      ClinGen alleleLookup allele:CA399196709 alleleLookup:individual individual:5 gene:TAOK1
    2. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763

      ClinGen hpoLookup monarchLookup HP:0001763 hpoLookup:individual individual:5 gene:TAOK1
    3. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382

      ClinGen hpoLookup monarchLookup HP:0001382 hpoLookup:individual individual:5 gene:TAOK1
    4. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705

      ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:5 gene:TAOK1
    5. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:5 gene:TAOK1
    6. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348

      ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:5 gene:TAOK1
    7. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736

      ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:5 gene:TAOK1
    8. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018

      ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:5 gene:TAOK1
    9. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001265

      ClinGen hpoLookup monarchLookup HP:0001265 hpoLookup:individual individual:5 gene:TAOK1
    10. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:5 gene:TAOK1
    11. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:5 gene:TAOK1
    Visit annotations in context

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    sciencedirect.com/science/article/pii/S0002929719301910