Kenia, Priti
11  Ergebnisse:
Personensuche X
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6

Ciliopathy patient variants reveal organelle-specific funct..:

Dodd, Daniel O ; Mechaussier, Sabrina ; Yeyati, Patricia L...
https://discovery.ucl.ac.uk/id/eprint/10192043/2/adf5489_CombinedPDF_v8.pdf.  , 2024
 
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7

Clinical utility of NGS diagnosis and disease stratificatio..:

Fassad, Mahmoud R ; Patel, Mitali P ; Shoemark, Amelia...
https://discovery.dundee.ac.uk/en/publications/8522aed6-f7f5-4ee5-8980-e80a875fed21.  , 2020
 
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8

Clinical features and management of children with primary c..:

Rubbo, Bruna ; Best, Sunayna ; Hirst, Robert Anthony...
https://discovery.dundee.ac.uk/en/publications/58a90c4f-00bd-488a-892e-db5d947ed5e2.  , 2020
 
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9

Risk factors for situs defects and congenital heart disease..:

Best, Sunayna ; Shoemark, Amelia ; Rubbo, Bruna...
https://discovery.dundee.ac.uk/en/publications/41a700e4-753c-4253-b92e-3a680b492fc5.  , 2019
 
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10

High prevalence of CCDC103 p.His154Pro mutation causing pri..:

Shoemark, Amelia ; Moya, Eduardo ; Hirst, Robert A...
https://discovery.dundee.ac.uk/en/publications/133ed1d2-88c8-41e8-99dd-007974e839d3.  , 2018
 
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