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Search Results - Acquaro, Roxanne
Search Results - Acquaro, Roxanne
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Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anem...
by
Liang, Jiancong
,
Alfano, Danielle N
,
Squires, James E
,
Riley, Melissa M
,
Parks, W Tony
,
Kofler, Julia
,
El-Gharbawy, Areeg
,
Madan-Kheterpal, Suneeta
,
Acquaro, Roxanne
,
Picarsic, Jennifer
Published in
Pediatric and developmental pathology
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Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing
by
Hu, Jie
,
Ou, Zhishuo
,
Surti, Urvashi
,
Kochmar, Sally
,
Hoffner, Lori
,
Madan‐Khetarpal, Suneeta
,
Arnold, Georgianne L.
,
Walsh, Leslie
,
Acquaro, Roxanne
,
Sebastian, Jessica
,
Yatsenko, Svetlana A.
Published in
American journal of medical genetics. Part A
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A case of Schindler disease in the setting of familial cardiomyopathy
by
Ortiz, Damara
,
Henderson, Nadene
,
Acquaro, Roxanne
,
Donti, Taraka
,
Cathey, Sara
,
Pollard, Laura
,
Wood, Tim
,
Liu, Pengfei
,
Eng, Christine M.
Published in
Molecular genetics and metabolism
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American Journal Of Medical Genetics. Part A
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Molecular Genetics And Metabolism
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Pediatric And Developmental Pathology
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Female
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Life Sciences & Biomedicine
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Abnormalities, Multiple - Diagnosis
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Abnormalities, Multiple - Genetics
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Acgh
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Anemia - Congenital
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Calcium-Binding Proteins - Genetics
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Card Signaling Adaptor Proteins - Genetics
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Cell Death
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