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Pilchman, Lisa
17  results:
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1

743 Utility of genetic testing in fetuses with suspected le..:

Crane, Haley ; Schindewolf, Erica M. ; Gebb, Juliana S....
American Journal of Obstetrics and Gynecology.  230 (2024)  1 - p. S396 , 2024
Link: https://doi.org/10.1016/..
 
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P774: Diagnosis of Au Kline syndrome in a fetus with lower ..:

Burrill, Natalie ; Khalek, Nahla ; Fiorentino, Desiree...
Genetics in Medicine Open.  2 (2024)  - p. 101682 , 2024
Link: https://doi.org/10.1016/..
 
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3

Is there an increased risk of genetic abnormalities in fetu..:

Gianforcaro, Kathleen ; Pilchman, Lisa ; Conway, Laura...
Prenatal Diagnosis.  44 (2024)  6-7 - p. 879-887 , 2024
Link: https://doi.org/10.1002/..
 
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884 Influence of growth restriction on perinatal outcomes i..:

Soni, Shelly ; Gebb, Juliana S. ; Khalek, Nahla...
American Journal of Obstetrics and Gynecology.  230 (2024)  1 - p. S468 , 2024
Link: https://doi.org/10.1016/..
 
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P767: Genetics of prenatally diagnosed micro/anophthalmia:

Burrill, Natalie ; Moldenhauer, Julie ; Schindewolf, Erica...
Genetics in Medicine Open.  2 (2024)  - p. 101675 , 2024
Link: https://doi.org/10.1016/..
 
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P783: Two fetuses with hereditary hemorrhagic telangiectasi..:

Burrill, Natalie ; Teefey, Christina Paidas ; Kumar, Nankee...
Genetics in Medicine Open.  2 (2024)  - p. 101691 , 2024
Link: https://doi.org/10.1016/..
 
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P773: Fetus with Cole-Carpenter type 2 presenting with nove..:

Burrill, Natalie ; Teefey, Christina Paidas ; Wright, Renee...
Genetics in Medicine Open.  2 (2024)  - p. 101681 , 2024
Link: https://doi.org/10.1016/..
 
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8

P785: Milroy disease presenting as hydrops fetalis: A case ..:

Crane, Haley ; Moldenhauer, Julie ; Khalek, Nahla...
Genetics in Medicine Open.  2 (2024)  - p. 101693 , 2024
Link: https://doi.org/10.1016/..
 
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9

P623: Prenatal diagnosis of a RNU4ATAC-related disorder det..:

Pilchman, Lisa ; Coleman, Beverly ; Fisher, Allan...
Genetics in Medicine Open.  1 (2023)  1 - p. 100679 , 2023
Link: https://doi.org/10.1016/..
 
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10

P624: First case of a FBXW11-related disorder diagnosed via..:

Pilchman, Lisa ; Coleman, Beverly ; Moldenhauer, Julie
Genetics in Medicine Open.  1 (2023)  1 - p. 100680 , 2023
Link: https://doi.org/10.1016/..
 
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11

Whole Exome Sequencing in an Enriched Population of Fetuses..:

Burrill, Natalie ; Schindewolf, Erica M. ; Pilchman, Lisa...
American Journal of Obstetrics and Gynecology.  228 (2023)  1 - p. S206 , 2023
Link: https://doi.org/10.1016/..
 
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12

eP449: Expansion of the prenatal phenotype of PIEZO1 varian..:

Burrill, Natalie ; Schindwolf, Erica ; Pilchman, Lisa...
Genetics in Medicine.  24 (2022)  3 - p. S281-S282 , 2022
Link: https://doi.org/10.1016/..
 
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13

Couple's Narratives of Communion and Isolation Following Ab..:

Werner-Lin, Allison ; Barg, Frances K. ; Kellom, Katherine S....
Qualitative Health Research.  26 (2016)  14 - p. 1975-1987 , 2016
Link: https://doi.org/10.1177/..
 
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14

Diamond–Blackfan anemia with mandibulofacial dystostosis is..:

Gripp, Karen W. ; Curry, Cynthia ; Olney, Ann Haskins...
American Journal of Medical Genetics Part A.  164 (2014)  9 - p. 2240-2249 , 2014
Link: https://doi.org/10.1002/..
 
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15

Diamond-Blackfan Anemia with Mandibulofacial Dystostosis is..:

Gripp, Karen W ; Curry, Cynthia ; Olney, Ann Haskins...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149220/.  , 2014
Link: http://www.ncbi.nlm.nih...
 
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