E-LIB Suche - Ergebnisse für: Skraban, Cara

1

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/..

2

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/..

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

Utility of genome sequencing in exome‐negative pediatric pa..:

Nomakuchi, Tomoki T. ; Teferedegn, Eden Y. ; Li, Dong...
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

5

Expanding the clinical phenotype and variant spectrum assoc..:

Sisroe, Talia ; Santos, Attila Dos ; Rippert, Alyssa L....
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

6

Biallelic variants in GTF3C5, a regulator of RNA polymerase..:

Iwata-Otsubo, Aiko ; Skraban, Cara M. ; Yoshimura, Atsunori...
Human Genetics. 143 (2024) 3 - p. 437-453 , 2024

Link: https://doi.org/10.1007/..

7

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/..

8

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/..

9

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/..

10

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/..

11

Retrospective identification of patients with SRRM2‐related..:

Regan‐Fendt, Kelly E. ; Rippert, Alyssa L. ; Medne, Livija...
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2149-2155 , 2023

Link: https://doi.org/10.1002/..

12

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/..

13

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/..

14

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
https://discovery.ucl.ac.uk/id/eprint/10165041/1/Houlden_awad039.pdf. , 2023

Link: https://discovery.ucl.ac..

15

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
https://boris.unibe.ch/178597/. , 2023

Link: https://boris.unibe.ch/1..