E-LIB Suche - Ergebnisse für: Colaiacovo, Samantha

1

Vascular calcification in chronic kidney disease associated..:

Schott, Clara ; Dilliott, Allison A. ; Wang, Jian...
Gene. 927 (2024) - p. 148731 , 2024

2

Reclassification of Genetic Testing Results: A Case Report ..:

Schott, Clara ; Colaiacovo, Samantha ; Baker, Cadence..
Canadian Journal of Kidney Health and Disease. 11 (2024) - p. , 2024

Link: https://doi.org/10.1177/..

3

Pancytopenia, splenomegaly, and mild bony abnormalities sec..:

Kowalczyk, Alexandra ; Chopra, Yogi Raj ; Saleh, Maha...
Pediatric Blood & Cancer. 70 (2023) 6 - p. , 2023

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

4

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher d..:

Al Harthy, Talib ; Colaiacovo, Samantha ; Gratton, Robert J....
Clinical Case Reports. 11 (2023) 8 - p. , 2023

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

5

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical a..:

Wojcik, Monica H. ; Srivastava, Siddharth ; Agrawal, Pankaj B....
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1900-1910 , 2023

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

6

An uninformative NIPT as an early indicator of cri‐du‐chat ..:

Shukla, Devanshi ; Dinunzio, Matthew ; Colaiacovo, Samantha..
Clinical Case Reports. 11 (2023) 8 - p. , 2023

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

7

A novel MAP3K7 mutation in a child with cardiospondylocarpo..:

Shepherd, William Billal ; Colaiacovo, Samantha ; Campbell, Craig.
Clinical Genetics. 103 (2022) 2 - p. 254-255 , 2022

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

8

Pitfalls in Genetic Testing for Consanguineous Pediatric Po..:

Saleh, Maha ; Colaiacovo, Samantha ; Napier, Melanie P....
Case Reports in Genetics. 2022 (2022) - p. 1-3 , 2022

Link: https://doi.org/10.1155/..

9

The phenotypic spectrum of AMER1‐related osteopathia striat..:

Heikoop, David ; Brick, Lauren ; Chitayat, David...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3793-3803 , 2021

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

10

Further delineation of Basel‐Vanagaite‐Smirin‐Yosef syndrom..:

Haynes, Devon ; Pollack, Lynda ; Prasad, Chitra...
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1785-1790 , 2020

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

11

Lessons learned from a child with a chromosomal abnormality..:

Zhou, Shijie ; Colaiacovo, Samantha ; Djolovic, Andrea.
Paediatrics & Child Health. 26 (2020) 3 - p. 139-140 , 2020

Link: https://doi.org/10.1093/..

12

Clinical and technical assessment of MedExome vs. NGS panel..:

Aref-Eshghi, Erfan ; Kerkhof, Jennifer ; Carere, Deana Alexis...
Journal of Human Genetics. 66 (2020) 5 - p. 451-464 , 2020

Link: https://doi.org/10.1038/..

13

Bulging anterior fontanelle and dense bones in an infant:

Halgren, Camilla Raya ; Lakhani, Jenna ; Colaiacovo, Samantha.
Paediatrics & Child Health. 25 (2019) 2 - p. 69-71 , 2019

Link: https://doi.org/10.1093/..

14

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher d..:

Al Harthy, Talib ; Colaiacovo, Samantha ; Gratton, Robert J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447878/. , 2023

Link: http://www.ncbi.nlm.nih...

15

An uninformative NIPT as an early indicator of cri‐du‐chat ..:

Shukla, Devanshi ; Dinunzio, Matthew ; Colaiacovo, Samantha..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387510/. , 2023

Link: http://www.ncbi.nlm.nih...