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Bivona, Stephanie
36  Ergebnisse:
Personensuche X
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1

Exome and genome sequencing in a heterogeneous population o..:

Pucel, Jenna ; Briere, Lauren C. ; Reuter, Chloe...
Genetics in Medicine.  26 (2024)  6 - p. 101115 , 2024
Link: https://doi.org/10.1016/..
 
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2

Recurrent ATP1A1 variant Gly903Arg causes developmental del..:

Dohrn, Maike F. ; Bademci, Guney ; Rebelo, Adriana P....
Annals of Clinical and Translational Neurology.  11 (2024)  4 - p. 1075-1079 , 2024
Link: https://doi.org/10.1002/..
 
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3

O23: Diagnostic success of genomic analyses in adults with ..:

Bivona, Stephanie ; Smith, Carson ; Bademci, Guney...
Genetics in Medicine Open.  2 (2024)  - p. 101018 , 2024
Link: https://doi.org/10.1016/..
 
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4

LUSTR: a new customizable tool for calling genome-wide germ..:

Lu, Jinfeng ; Toro, Camilo ; Adams, David R....
BMC Genomics.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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5

P458: EFEMP1 haploinsufficiency causes a Marfan-like heredi..:

Forghani, Irman ; Lang, Steven ; Tekin, Mustafa...
Genetics in Medicine Open.  2 (2024)  - p. 101352 , 2024
Link: https://doi.org/10.1016/..
 
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6

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary c..:

Forghani, Irman ; Lang, Steven H. ; Rodier, Matthew J....
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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7

P121: Comparison of diagnostic outcome amongst different et..:

Bivona, Stephanie ; Tekin, Mustafa ; Bademci, Guney...
Genetics in Medicine Open.  1 (2023)  1 - p. 100150 , 2023
Link: https://doi.org/10.1016/..
 
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8

H4C5 missense variant leads to a neurodevelopmental phenoty..:

Borja, Nicholas ; Borjas‐Mendoza, Paulo ; Bivona, Stephanie...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1911-1916 , 2023
Link: https://doi.org/10.1002/..
 
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9

P371: Initial evaluation of newborn screening for X-linked ..:

Zoullas, Sofia ; Barbouth, Deborah ; Mendoza, Paulo Borjas..
Genetics in Medicine Open.  1 (2023)  1 - p. 100399 , 2023
Link: https://doi.org/10.1016/..
 
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10

P642: Diagnostic yield of multi-omics approach in Undiagnos..:

Bademci, Guney ; Bivona, Stephanie ; Peart, LeShon...
Genetics in Medicine Open.  1 (2023)  1 - p. 100707 , 2023
Link: https://doi.org/10.1016/..
 
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11

Bilateral choanal stenosis in auriculocondylar syndrome cau..:

Peart, Lé Shon ; Gonzalez, Joanna ; Bivona, Stephanie...
American Journal of Medical Genetics Part A.  188 (2022)  4 - p. 1307-1310 , 2022
Link: https://doi.org/10.1002/..
 
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12

Genome sequencing reveals novel noncoding variants in PLA2G..:

Borja, Nicholas ; Bivona, Stephanie ; Peart, Lé Shon...
Molecular Genetics & Genomic Medicine.  10 (2022)  4 - p. , 2022
Link: https://doi.org/10.1002/..
 
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13

Challenges of infertility genetic counseling: Impact on cou..:

Liker, Karina ; Black, Lauri ; Weil, Jon...
Journal of Genetic Counseling.  28 (2019)  3 - p. 626-640 , 2019
Link: https://doi.org/10.1002/..
 
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14

The complexity of conditions for which patients pursue PGT-..:

Spor, Lauren ; Cotter, Kristina ; Bivona, Stephanie...
Fertility and Sterility.  111 (2019)  4 - p. e10-e11 , 2019
Link: https://doi.org/10.1016/..
 
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15

Much ado about nothing: A qualitative study of the experien..:

Rego, Shannon ; Dagan‐Rosenfeld, Orit ; Bivona, Stephanie A...
Journal of Genetic Counseling.  28 (2019)  2 - p. 428-437 , 2019
Link: https://doi.org/10.1002/..
 
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