I agree that this site is using cookies. You can find further informations here.
X
Skraban, Cara
88  results:
Search for persons X
?
1

O07: Haploinsufficiency of EIF3A and EIF3B cause a clinical..:

Somerville, Cherith ; Erkut, Ersa ; Schwartz, Marci...
Genetics in Medicine Open.  2 (2024)  - p. 101469 , 2024
Link: https://doi.org/10.1016/..
 
?
2

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyo..:

Keisling, Julia ; Bedoukian, Emma ; Burstein, Danielle S....
The Journal of Pediatrics.  265 (2024)  - p. 113808 , 2024
Link: https://doi.org/10.1016/..
 
?
3

P186: The earliest sign of hypogonadotropic hypogonadism: T..:

Leonard, Jacqueline ; Kilberg, Marissa ; Vogiatzi, Maria...
Genetics in Medicine Open.  2 (2024)  - p. 101083 , 2024
Link: https://doi.org/10.1016/..
 
?
4

P386: Agenesis of olfactory apparatus due to intragenic del..:

Donoghue, Sarah ; Skraban, Cara ; Squicciarini, Jake...
Genetics in Medicine Open.  2 (2024)  - p. 101280 , 2024
Link: https://doi.org/10.1016/..
 
?
5

Expansion of the prenatal phenotype of Baraitser–Winter syn..:

Burrill, Natalie ; Crane, Haley ; Khalek, Nahla...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
?
6

Molecular diagnosis and novel genes and phenotypes in a ped..:

Strong, Alanna ; Behr, Meckenzie ; Lott, Carina...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
?
7

Hospital-level variation in genetic testing in children's h..:

Callahan, Katharine Press ; Radack, Joshua ; Wojcik, Monica H....
Genetics in Medicine.  25 (2023)  3 - p. 100357 , 2023
Link: https://doi.org/10.1016/..
 
?
8

Expanding the reproductive organ phenotype of CHD7‐spectrum..:

Nomakuchi, Tomoki T. ; Danowitz, Melinda ; Stewart, Blythe...
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1418-1424 , 2023
Link: https://doi.org/10.1002/..
 
?
9

Monoallelic loss-of-function BMP2 variants result in BMP2-r..:

Priestley, Jessica R.C. ; Deshwar, Ashish R. ; Murthy, Harsha...
Genetics in Medicine.  25 (2023)  8 - p. 100863 , 2023
Link: https://doi.org/10.1016/..
 
?
10

Expanding the phenotypic spectrum of ARCN1-related syndrome:

Ritter, Alyssa L. ; Gold, Jessica ; Hayashi, Hiroshi...
Genetics in Medicine.  24 (2022)  6 - p. 1227-1237 , 2022
Link: https://doi.org/10.1016/..
 
?
11

Correction to: Genetics etiologies and genotype phenotype c..:

Liu, Mandi ; Smith, Christopher L. ; Biko, David M....
European Journal of Human Genetics.  30 (2022)  9 - p. 1094-1094 , 2022
Link: https://doi.org/10.1038/..
 
?
12

Genetics etiologies and genotype phenotype correlations in ..:

Liu, Mandi ; Smith, Christopher L. ; Biko, David M....
European Journal of Human Genetics.  30 (2022)  9 - p. 1022-1028 , 2022
Link: https://doi.org/10.1038/..
 
?
13

Expanding the phenotypic spectrum of Mendelian connective t..:

Strong, Alanna ; Skraban, Cara ; Meyers, Kevin...
American Journal of Medical Genetics Part A.  185 (2021)  12 - p. 3762-3769 , 2021
Link: https://doi.org/10.1002/..
 
?
14

Palmoplantar keratoderma with deafness phenotypic variabili..:

Bedoukian, Emma C. ; Rentas, Stefan ; Skraban, Cara...
Molecular Genetics & Genomic Medicine.  9 (2021)  2 - p. , 2021
Link: https://doi.org/10.1002/..
 
?
15

How neonatologists use genetic testing: findings from a nat..:

Callahan, Katharine Press ; Flibotte, John ; Skraban, Cara...
Journal of Perinatology.  42 (2021)  2 - p. 260-261 , 2021
Link: https://doi.org/10.1038/..
 
1-15