E-LIB Suche - Ergebnisse für: Alaimo, Joseph

1

O10: Exome-based integrated CNV/SNV analysis as a superior ..:

Saunders, Carol ; Alaimo, Joseph ; Del Viso, Florencia...
Genetics in Medicine Open. 2 (2024) - p. 101014 , 2024

Link: https://doi.org/10.1016/..

2

P225: Efficacy of NGS testing for pediatric endocrine relat..:

Alaimo, Joseph ; Del Viso, Florencia ; Paolillo, Vitoria...
Genetics in Medicine Open. 2 (2024) - p. 101122 , 2024

Link: https://doi.org/10.1016/..

3

O24: Unveiling the power of HiFi genome sequencing: One tes..:

Farrow, Emily ; Saunders, Carol ; Gibson, Margaret...
Genetics in Medicine Open. 2 (2024) - p. 101471 , 2024

Link: https://doi.org/10.1016/..

4

P301: Pathogenic NOTCH1 variation displays a spectrum of ca..:

Alaimo, Joseph ; Del Viso, Florencia ; Cohen, Ana S.A....
Genetics in Medicine Open. 2 (2024) - p. 101197 , 2024

Link: https://doi.org/10.1016/..

5

P236: Familial Russell-Silver syndrome: Hypomethylation of ..:

Engleman, Kendra ; Cohen, Ana S.A. ; Alaimo, Joseph.
Genetics in Medicine Open. 2 (2024) - p. 101132 , 2024

Link: https://doi.org/10.1016/..

6

P066: Variant overlooked: A partial deficiency TP53 allele ..:

Lansdon, Lisa ; Del Viso, Florencia ; Schwager, Caitlin...
Genetics in Medicine Open. 1 (2023) 1 - p. 100085 , 2023

Link: https://doi.org/10.1016/..

7

P152: TCOF1-related Treacher Collins syndrome: Report of a ..:

Cross, Laura ; Alaimo, Joseph ; Amudhavalli, Shivarajan
Genetics in Medicine Open. 1 (2023) 1 - p. 100181 , 2023

Link: https://doi.org/10.1016/..

8

P571: Expanding the genetic and phenotypic spectrum of cohe..:

Thiffault, Isabelle ; Alaimo, Joseph ; Paolillo, Vitoria...
Genetics in Medicine Open. 1 (2023) 1 - p. 100618 , 2023

Link: https://doi.org/10.1016/..

9

P457: A case of hexasomy 15q due to a tricentric supernumer..:

Farrow, Emily ; Cross, Laura ; Sullivan, Bonnie...
Genetics in Medicine Open. 1 (2023) 1 - p. 100504 , 2023

Link: https://doi.org/10.1016/..

10

Many clinical laboratories performing next-generation seque..:

Lansdon, Lisa ; Cadieux-Dion, Maxime ; Yoo, Byunggil...
Molecular Genetics and Metabolism. 132 (2021) - p. S252 , 2021

Link: https://doi.org/10.1016/..

11

Composite Sleep Problems Observed Across Smith–Magenis Synd..:

Gandhi, Anusha ; Zhou, Dihong ; Alaimo, Joseph...
Journal of Autism and Developmental Disorders. 51 (2020) 6 - p. 1852-1865 , 2020

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

12

Diagnosis and management in Pitt‐Hopkins syndrome: First in..:

Zollino, Marcella ; Zweier, Christiane ; Van Balkom, Ingrid D....
Clinical Genetics. 95 (2019) 4 - p. 462-478 , 2019

Link: https://doi.org/10.1111/..

13

Phenotypic and Molecular Convergence of 2q23.1 Deletion Syn..:

Mullegama, Sureni ; Alaimo, Joseph ; Chen, Li.
International Journal of Molecular Sciences. 16 (2015) 4 - p. 7627-7643 , 2015

Link: https://doi.org/10.3390/..

14

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1240 , 2024

Link: https://doi.org/10.1016/..

15

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 4 - p. 778-790 , 2024

Link: https://doi.org/10.1016/..