Showing 1 - 4 results of 4 for search 'Nienke Dosa', query time: 0.02s Refine Results
  1. 1
    P442: An atypical presentation of 17q12 recurrent deletion syndrome resulting in the misdiagnosis of Meckel-Gruber syndrome: A case report

    P442: An atypical presentation of 17q12 recurrent deletion syndrome resulting in the misdiagnosis of Meckel-Gruber syndrome: A case report by Kathleen Renna, Jennifer Black, Nienke Dosa, Robert Lebel

    Published 2024-01-01
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  2. 2
    P241: Expanding the phenotype of DREAM-PL: A case report

    P241: Expanding the phenotype of DREAM-PL: A case report by Daniel Mahoney, Jennifer Black, Nienke Dosa, Ai Sakonju, Robert Lebel

    Published 2023-01-01
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  3. 3
    P340: Kabuki syndrome and metachromatic leukodystrophy, dual diagnosis in a female patient: A case report

    P340: Kabuki syndrome and metachromatic leukodystrophy, dual diagnosis in a female patient: A case report by Margarita Vazquez Almonte, Jennifer Black, Melissa Byler, Robert Lebel, Nienke Dosa

    Published 2023-01-01
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  4. 4
    P741: Brothers concordant for adverse phenotype and Primrose syndrome apparently by parental gonadal mosaicism for ZBTB20 variant

    P741: Brothers concordant for adverse phenotype and Primrose syndrome apparently by parental gonadal mosaicism for ZBTB20 variant by Tatiana Hellwig, Jennifer Black, Nienke Dosa, Prateek Wali, David Hansen, Arayamparambil Anilkumar, Robert Lebel

    Published 2024-01-01
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