Hasil Pencarian - Seth Berger

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  1. 1
    P405: Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of healthcare claims data to inform protocol design

    P405: Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of healthcare claims data to inform protocol design oleh Terry Jo Bichell, Natasha Ludwig, Elizabeth Rountree, Seth Berger, Kimberly Goodspeed

    Diterbitkan 2023-01-01
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  2. 2
    P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder

    P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder oleh Kim Keppler-Noreuil, Sharon Luu, Katryn Furuya, Seth Berger, Eyby Leon

    Diterbitkan 2024-01-01
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  3. 3
    P639: Prenatal diagnosis of Alkuraya-Kučinskas syndrome by exome sequencing

    P639: Prenatal diagnosis of Alkuraya-Kučinskas syndrome by exome sequencing oleh Stephanie Rice, Dante Varotsis, Sascha Wodoslawsky, Elizabeth Critchlow, Ruby Liu, Seth Berger, Huda Al-Kouatly

    Diterbitkan 2023-01-01
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  4. 4
    P604: Deciphering the clinical relevance of PIEZO1 variants detected by prenatal exome sequencing in nonimmune hydrops fetalis

    P604: Deciphering the clinical relevance of PIEZO1 variants detected by prenatal exome sequencing in nonimmune hydrops fetalis oleh Casey Brewer, Mona Makhamreh, Kavya Shivashankar, Mariella Toro, Hiba Mustafa, Seth Berger, Huda Al-Kouatly

    Diterbitkan 2023-01-01
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  5. 5
    P615: Congenital anemias in nonimmune hydrops fetalis diagnosed by exome sequencing

    P615: Congenital anemias in nonimmune hydrops fetalis diagnosed by exome sequencing oleh Mona Makhamreh, Kavya Shivashankar, Stephanie Rice, Casey Brewer, Hiba Mustafa, Seth Berger, Huda Al-Kouatly

    Diterbitkan 2023-01-01
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  6. 6
    P204: Primary care electronic medical record features predicting genetics referrals

    P204: Primary care electronic medical record features predicting genetics referrals oleh Cristal Hernandez Hernandez, Nhat Duong, Andrea Cohen, Elmer Rajah, Eric Vilain, Daniel Felten, Andrea Gropman, Seth Berger

    Diterbitkan 2024-01-01
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  7. 7
    Unexplained oral and extremity ulcerations in an infant

    Unexplained oral and extremity ulcerations in an infant oleh Kristen Russomanno, MD, Ashley DiLorenzo, MD, Kara Simpson, MS, Seth Berger, MD, PhD, Kaiane Habeshian, MD

    Diterbitkan 2021-03-01
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  8. 8
    P148: Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing*

    P148: Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing* oleh Andrea Cohen, Joel Hughes, Clifton Dalgard, Paul Kruszka, Emmanuele Delot, Vincent Fusaro, Eric Vilain, Maximilian Muenke, Seth Berger

    Diterbitkan 2023-01-01
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  9. 9
    P848: Novel structural variant in PDGFB-associated with ectopic intracerebral calcifications

    P848: Novel structural variant in PDGFB-associated with ectopic intracerebral calcifications oleh David D'Onofrio, Andrea Cohen, Meredith Gillis, Seth Berger, May Christine Malicdan, William Gahl, David Adams, Camilo Toro, Thomas Cassini

    Diterbitkan 2024-01-01
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  10. 10
    P184: Hypermobility clinic: Innovative workflow supporting patients and provider wellness

    P184: Hypermobility clinic: Innovative workflow supporting patients and provider wellness oleh Kimberly Chapman, Spencer Vause, Seth Berger, Deepika Burkardt, Jamie Fraser, Christina Grant, KeriAnn Kuperman, Amy Lewanda, Darilyn Mahoney, Gabrielle Pomorski, Louise Pyle, Kenneth Rosenbaum, Kiley Quintana, Natasha Shur, Debra Regier

    Diterbitkan 2024-01-01
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  11. 11
    P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia*

    P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia* oleh Emmanuèle Délot, Jean Monlong, Xiao Chen, Hayk Barseghyan, Surajit Bhattacharya, Jonathan LoTempio, Brandy McNulty, Shloka Negi, Sara O'Rourke, Alexander Robertson, William Rowell, Seth Berger, Karen Miga, Benedict Paten, Jonah Cool, Eric Vilain

    Diterbitkan 2024-01-01
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