E-LIB Suche - Ergebnisse für: Jayakar, Parul

1

Monitoring and integrated care coordination of patients wit..:

Guffon, Nathalie ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108519 , 2024

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

2

P400: Expanding the phenotype of NAA10 related Ogden syndro..:

Schwartz, Brooke ; Cordero, Juan ; Rosa, Potyra..
Genetics in Medicine Open. 2 (2024) - p. 101294 , 2024

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

3

A Delphi consensus approach to monitoring and integrated ca..:

Muschol, Nicole M. ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107974 , 2024

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

4

De novo variants in GABRA4 are associated with a neurologic..:

Sajan, Samin A. ; Gradisch, Ralph ; Vogel, Florian D....
European Journal of Human Genetics. , 2024

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

5

P486: A global Delphi consensus approach to monitoring and ..:

Ficicioglu, Can ; Muschol, Nicole ; Burton, Barbara...
Genetics in Medicine Open. 2 (2024) - p. 101385 , 2024

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

6

Hemizygous variants in protein phosphatase 1 regulatory sub..:

Liu, Zhigang ; Xin, Baozhong ; Smith, Iris N...
Human Molecular Genetics. 32 (2023) 20 - p. 2981-2995 , 2023

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

7

Report of two cases of Schaaf‐Yang syndrome: Same genotype ..:

Rodriguez, Ana Maria ; Schain, Katherine ; Jayakar, Parul...
Clinical Case Reports. 11 (2023) 8 - p. , 2023

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

8

P572: Detecting short tandem repeat expansions: Three-year ..:

Thomas, Brittany ; Kesari, Akanchha ; Lumaka, Aime...
Genetics in Medicine Open. 1 (2023) 1 - p. 100619 , 2023

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

9

Clinico‐radiological features, molecular spectrum, and iden..:

Scala, Marcello ; Wortmann, Saskia B. ; Kaya, Namik...
Human Mutation. 43 (2022) 3 - p. 403-419 , 2022

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

10

Syndromic Microphthalmia 9: Role of rapid genome sequencing..:

Saini, Ashish ; Almasarweh, Saleem ; Acosta, Stephanie...
Progress in Pediatric Cardiology. 64 (2022) - p. 101443 , 2022

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

11

Real-world economic evaluation of prospective rapid whole-g..:

Diaby, Vakaramoko ; Babcock, Aram ; Huang, Yushi...
The Pharmacogenomics Journal. 22 (2022) 4 - p. 223-229 , 2022

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

12

Discovery of a neuromuscular syndrome caused by biallelic v..:

Nair, Divya ; Li, Dong ; Erdogan, Hannah...
Human Genetics and Genomics Advances. 3 (2022) 4 - p. 100122 , 2022

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

13

Hypermethioninemia due to adenosine kinase deficiency: nove..:

Saini, Ashish ; Kana, Sajel ; Visona, Cristina..
Molecular Genetics and Metabolism. 132 (2021) - p. S13 , 2021

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

14

Clinical, neuroimaging, and molecular spectrum ofTECPR2‐ass..:

Neuser, Sonja ; Brechmann, Barbara ; Heimer, Gali...
Human Mutation. 42 (2021) 6 - p. 762-776 , 2021

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

15

Case Report: The Association of Wilson Disease in a Patient..:

Diaz, Jenna ; Fonseca, Ashley G. ; Arboleda, Richard...
Frontiers in Pediatrics. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..