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Search Results - Poranki, Menitha
Search Results - Poranki, Menitha
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TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia
by
Balkin, Daniel M.
,
Poranki, Menitha
,
Forester, Craig M.
,
Dorsey, Morna J.
,
Slavotinek, Anne
,
Pomerantz, Jason H.
Published in
Molecular genetics & genomic medicine
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Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population
by
Islam, Farrah
,
Htun, Stephanie
,
Lai, Li‐Wen
,
Krall, Max
,
Poranki, Menitha
,
Martin, Pierre‐Marie
,
Sobreira, Nara
,
Wohler, Elizabeth S.
,
Yu, Jingwei
,
Moore, Anthony T.
,
Slavotinek, Anne M.
Published in
Clinical genetics
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Clinical Genetics
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Life Sciences & Biomedicine
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Science & Technology
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Anemia, Macrocytic - Diagnosis
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Anemia, Macrocytic - Genetics
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Anophthalmia
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Anterior Segment Dysgenesis
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Anterior Segment Dysgenesis Syndrome
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Aspartase
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