Hasil Pencarian - Elizabeth Mizerik

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  1. 1
    P533: Meeting the increasing need for inpatient genetics services: Experience at Texas Children’s Hospital

    P533: Meeting the increasing need for inpatient genetics services: Experience at Texas Children’s Hospital oleh Elizabeth Mizerik, Emily Waskow

    Diterbitkan 2024-01-01
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  2. 2
    P703: Pathogenic ZIC2 polyalanine expansion detected by exome sequencing in a family with multi-generation holoprosencephaly

    P703: Pathogenic ZIC2 polyalanine expansion detected by exome sequencing in a family with multi-generation holoprosencephaly oleh Nichole Owen, Liesbeth Vossaert, Lorraine Potocki, Elizabeth Mizerik

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  3. 3
    P700: Heterozygous deletion of valine at position 2321 of RYR2 in two siblings with sudden cardiac death

    P700: Heterozygous deletion of valine at position 2321 of RYR2 in two siblings with sudden cardiac death oleh Eric Kao, Elizabeth Mizerik, Yishay Ben Moshe, Nichole Owen, Liesbeth Vossaert

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  4. 4
    P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2

    P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2 oleh Chelsi Rose, Elizabeth Mizerik, Nichole Owen, Casey Thornton, Chaya Murali, Lorraine Potocki

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  5. 5
    P793: Pre- and post-implementation of protocol for genetics evaluation for intrauterine fetal demise at Texas Children’s Hospital

    P793: Pre- and post-implementation of protocol for genetics evaluation for intrauterine fetal demise at Texas Children’s Hospital oleh Elizabeth Mizerik, April Adams, Lena Shay, Lauren Westerfield, Christian Parobek, Janice Smith

    Diterbitkan 2024-01-01
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  6. 6
    P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome

    P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome oleh Matthew Hoi Kin Chau, Elizabeth Mizerik, Laurie Robak, Pengfei Liu, Liesbeth Vossaert, Nichole Owen

    Diterbitkan 2023-01-01
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  7. 7
    P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease

    P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease oleh Katharina Schulze, Matthew Hoi Kin Chau, Hongzheng Dai, Elizabeth Mizerik, Keren Machol, Nichole Owen

    Diterbitkan 2024-01-01
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  8. 8
    P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly

    P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly oleh Casey Thornton, Nichole Owen, Elizabeth Mizerik, Chelsi Rose, Seema Lalani, Emily Waskow, Keren Machol

    Diterbitkan 2024-01-01
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  9. 9
    P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis

    P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis oleh Dan Brooks, Elizabeth Mizerik, Liesbeth Vossaert, Seema Lalani, Monika Weisz-Hubshman, Lorraine Potocki, Laurie Robak

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  10. 10
    P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat

    P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat oleh Emily Waskow, Elizabeth Mizerik, Nichole Owen, Matthew Hoi Kin Chau, Rachel Franciskovich, Kevin Glinton, Keren Machol

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  11. 11
    P284: Compound heterozygosity for loss-of-function variants in GDF1 provides a molecular diagnosis in a patient with heterotaxy syndrome

    P284: Compound heterozygosity for loss-of-function variants in GDF1 provides a molecular diagnosis in a patient with heterotaxy syndrome oleh Vittoria Rossi, Xi Luo, Kristin Cardiel Nunez, Ruiyang Yi, Elizabeth Mizerik, Lauren Westerfield, Seema Lalani, Mir Reza Bekheirnia

    Diterbitkan 2023-01-01
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  12. 12
    P573: Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy

    P573: Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy oleh Casey Thornton, Elizabeth Mizerik, Dan Brooks, Chaya Murali, Christian Parobek, Lorraine Potocki, Pengfei Liu, Nichole Owen, Liesbeth Vossaert

    Diterbitkan 2023-01-01
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  13. 13
    P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome

    P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome oleh Liesbeth Vossaert, Nichole Owen, Hongzheng Dai, Eric Kao, Xiaonan Zhao, Seema Lalani, Monika Weisz-Hubshman, Lorraine Potocki, Elizabeth Mizerik

    Diterbitkan 2024-01-01
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  14. 14
    P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure

    P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure oleh Vittoria Rossi, Dan Brooks, Hongzheng Dai, Elizabeth Mizerik, Yishay Ben-Moshe, Seema Lalani, Daryl Scott, Fernando Scaglia, Keren Machol, Mir Reza Bekheirnia

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  15. 15
    P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders

    P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders oleh Amir Hossein Saeidian, Liesbeth Vossaert, Elizabeth Mizerik, Wilson CW. Wu, Hongzheng Dai, Nichole Owen, Janice Smith, Linyan Meng, Christine Eng, Fan Xia, Weimin Bi, Xiaonan Zhao

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