E-LIB Suche - Ergebnisse für: Medne, Livija

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

Unusually severe muscular dystrophy upon in-frame deletion ..:

Gorokhova, Svetlana ; Schessl, Joachim ; Zou, Yaqun...
Med. 4 (2023) 4 - p. 245-251.e3 , 2023

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

3

P452: Specifying the ACMG/AMP variant sequence interpretati..:

DiStefano, Marina ; Webb, Ryan ; McCurry, Hannah...
Genetics in Medicine Open. 1 (2023) 1 - p. 100499 , 2023

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

4

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/..

5

A comprehensive study of skeletal muscle imaging in FHL1‐re..:

Mohassel, Payam ; Yun, Pomi ; Syeda, Safoora...
Annals of Clinical and Translational Neurology. 10 (2023) 8 - p. 1442-1455 , 2023

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

6

eP449: Expansion of the prenatal phenotype of PIEZO1 varian..:

Burrill, Natalie ; Schindwolf, Erica ; Pilchman, Lisa...
Genetics in Medicine. 24 (2022) 3 - p. S281-S282 , 2022

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

7

PheNominal: an EHR-integrated web application for structure..:

Havrilla, James M. ; Singaravelu, Anbumalar ; Driscoll, Dennis M....
BMC Medical Informatics and Decision Making. 22 (2022) S2 - p. , 2022

Link: https://doi.org/10.1186/..

8

Molecular Mechanisms Contributing to the Etiology of Congen..:

Katz, Olivia L. ; Wild, K. Taylor ; McEldrew, Deborah...
The Journal of Pediatrics. 246 (2022) - p. 251-265.e2 , 2022

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

9

MLIP causes recessive myopathy with rhabdomyolysis, myalgia..:

Lopes Abath Neto, Osorio ; Medne, Livija ; Donkervoort, Sandra...
Brain. 144 (2021) 9 - p. 2722-2731 , 2021

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

10

ANKRD11 variants: KBG syndrome and beyond:

Parenti, Ilaria ; Mallozzi, Mark B. ; Hüning, Irina...
Clinical Genetics. 100 (2021) 2 - p. 187-200 , 2021

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

11

Implementation of telemedicine-based pediatric genetics car..:

Szigety, Katherine ; Crowley, Terrence ; Campbell, Ian...
Molecular Genetics and Metabolism. 132 (2021) - p. S350 , 2021

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

12

An ancestral 10-bp repeat expansion in VWA1 causes recessiv..:

Pagnamenta, Alistair T ; Kaiyrzhanov, Rauan ; Zou, Yaqun...
Brain. 144 (2021) 2 - p. 584-600 , 2021

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

13

Variants in NAA15 cause pediatric hypertrophic cardiomyopat..:

Ritter, Alyssa ; Berger, Justin H. ; Deardorff, Matthew...
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 228-233 , 2020

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

14

Clinical utility of exome sequencing in infantile heart fai..:

Ritter, Alyssa ; Bedoukian, Emma ; Berger, Justin H....
Genetics in Medicine. 22 (2020) 2 - p. 423-426 , 2020

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

15

Ciliopathies: Coloring outside of the lines:

Strong, Alanna ; Li, Dong ; Mentch, Frank...
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 687-694 , 2020

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