Hasil Pencarian - Joseph Alaimo

  • Menampilkan 1 - 9 hasil dari 9
Perbaiki Hasil
  1. 1
    P152: TCOF1-related Treacher Collins syndrome: Report of a clinically unaffected parent with mosaicism

    P152: TCOF1-related Treacher Collins syndrome: Report of a clinically unaffected parent with mosaicism oleh Laura Cross, Joseph Alaimo, Shivarajan Amudhavalli

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    P236: Familial Russell-Silver syndrome: Hypomethylation of imprinting center 1 in two siblings

    P236: Familial Russell-Silver syndrome: Hypomethylation of imprinting center 1 in two siblings oleh Kendra Engleman, Ana S.A. Cohen, Joseph Alaimo, Bonnie Sullivan

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    P301: Pathogenic NOTCH1 variation displays a spectrum of cardiac and extra-cardiac anomalies

    P301: Pathogenic NOTCH1 variation displays a spectrum of cardiac and extra-cardiac anomalies oleh Joseph Alaimo, Florencia Del Viso, Ana S.A. Cohen, Emily Farrow, Carol Saunders, Isabelle Thiffault

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    P225: Efficacy of NGS testing for pediatric endocrine related disease

    P225: Efficacy of NGS testing for pediatric endocrine related disease oleh Joseph Alaimo, Florencia Del Viso, Vitoria Paolillo, Ana S.A. Cohen, Isabelle Thiffault, Carol Saunders

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    P457: A case of hexasomy 15q due to a tricentric supernumerary chromosome 15

    P457: A case of hexasomy 15q due to a tricentric supernumerary chromosome 15 oleh Emily Farrow, Laura Cross, Bonnie Sullivan, Keely Fitzgerald, Ahmed Abdelmoity, Joseph Alaimo, Elena Repnikova, John Herriges, Lei Zhang

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    P066: Variant overlooked: A partial deficiency TP53 allele that skirts interpretation criteria

    P066: Variant overlooked: A partial deficiency TP53 allele that skirts interpretation criteria oleh Lisa Lansdon, Florencia Del Viso, Caitlin Schwager, Lei Zhang, Sultan Habeebu, Melissa Gener, Midhat Farooqi, Kevin Ginn, Joseph Alaimo

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing?

    O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing? oleh Carol Saunders, Joseph Alaimo, Florencia Del Viso, Victoria Paolillo, Ana S.A. Cohen, John Herriges, Greg Marsh, Isabelle Thiffault, Emily Farrow

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    O24: Unveiling the power of HiFi genome sequencing: One test to rule them all?

    O24: Unveiling the power of HiFi genome sequencing: One test to rule them all? oleh Emily Farrow, Carol Saunders, Margaret Gibson, Adam Walter, Ana S.A. Cohen, Joseph Alaimo, Tricia Zion, Charlie Bi, YuXin Zhou, Guil Bourque, Adam Johnson, Byunggil Yoo, Carl Schwendinger-Schreck, Jeff Johnston, Warren Cheung, Tomi Pastinen, Isabelle Thiffault

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center

    P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center oleh Isabelle Thiffault, Joseph Alaimo, Vitoria Paolillo, Florencia Del Viso, Ana Cohen, Emily Farrow, Susan Starling, Maggie Humphrey, Caitlin Schwager, Lauren Bartik, Kendra Engleman, Laura Cross, Holly Welsh, Eric Rush, Shivarajan Amudhavalli, Bonnie Sullivan, Dihong Zhou, Elizabeth Shaffer, Waseem Baig, Lee Zellmer, Mary Rindler, Tricia Zion, Emelia Boillat, Tomi Pastinen, Carol Saunders, Isabelle Thiffault

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: