Search Results - "Kopinsky, S."

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia by Ullah, E, Wu, D, Madireddy, L, Lao, R, Ling-Fung Tang, P, Wan, E, Bardakjian, T, Kopinsky, S, Kwok, P-Y, Schneider, A, Baranzini, S, Ansar, M, Slavotinek, A

“…To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and…”
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Niflings are nephews and nieces by Kopinsky, Sarina M.

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Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia by Ullah, E., Wu, D., Madireddy, L., Lao, R., Ling-Fung Tang, P., Wan, E., Bardakjian, T., Kopinsky, S., Kwok, P.-Y., Schneider, A., Baranzini, S., Ansar, M., Slavotinek, A.

“…To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and…”
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Communication in genetic counselling by Op'T Hof, J. & Kopinsky, S.M.

“…The importance of genetic counselling is being emphasized to an increasing degree, especially in view of advancements in the field of prenatal diagnosis and in…”
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