E-LIB Suche - Ergebnisse für: Belmont, John

1

Evidence review and considerations for use of first line ge..:

Wigby, Kristen M. ; Brockman, Deanna ; Costain, Gregory...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

2

O38: The impact of whole genome sequencing in a diverse glo..:

Taft, Ryan ; Thorpe, Erin ; Belmont, John...
Genetics in Medicine Open. 1 (2023) 1 - p. 100464 , 2023

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

3

P420: Development of a comprehensive cardiovascular disease..:

Amendola, Laura ; Coffey, Alison ; Strom, Samuel...
Genetics in Medicine Open. 1 (2023) 1 - p. 100467 , 2023

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

4

OP039: Best practices for the interpretation and reporting ..:

Austin-Tse, Chrissy ; Jobanputra, Vaidehi ; Perry, Denise...
Genetics in Medicine. 24 (2022) 3 - p. S365-S366 , 2022

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

5

EP1243: COMMON VARIANTS IN CARBOHYDRATES DIGESTIVE ENZYME G..:

Hong, Hyejeong ; Schulze, Katharina V. ; Copeland, Ian E....
Gastroenterology. 162 (2022) 7 - p. S-1076 , 2022

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

6

Multiple molecular diagnoses in individual patients identif..:

Malhotra, Alka ; Thorpe, Erin ; Ortega, Julia...
Molecular Genetics and Metabolism. 132 (2021) - p. S153 , 2021

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

7

A case series of challenging molecular diagnoses identified..:

Schlachetzki, Zinayida ; Chandrasekhar, Anjana ; Clause, Amanda...
Molecular Genetics and Metabolism. 132 (2021) - p. S182 , 2021

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

8

A Diagnosis for All Rare Genetic Diseases: The Horizon and ..:

Boycott, Kym M. ; Hartley, Taila ; Biesecker, Leslie G....
Cell. 177 (2019) 1 - p. 32-37 , 2019

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

9

Recurrent mosaic MTOR c.5930C>T (p.Thr1977Ile) Variant Caus..:

Handoko, Maureen ; Emrick, Lisa ; Rosenfeld, Jill...
Neurology. 92 (2019) 15_supplement - p. , 2019

Link: https://doi.org/10.1212/..

10

Copy-number variants in clinical genome sequencing: deploym..:

Gross, Andrew M. ; Ajay, Subramanian S. ; Rajan, Vani...
Genetics in Medicine. 21 (2019) 5 - p. 1121-1130 , 2019

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

11

Childhood and Adult Irritable Bowel Syndrome (IBS) is Assoc..:

Belmont, John ; Heitkemper, Margaret ; Ringel-Kulka, Tamar..
Gastroenterology. 152 (2017) 5 - p. S808 , 2017

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

12

The 2017 international classification of the Ehlers–Danlos ..:

Malfait, Fransiska ; Francomano, Clair ; Byers, Peter...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175 (2017) 1 - p. 8-26 , 2017

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

13

Diagnosis, natural history, and management in vascular Ehle..:

Byers, Peter H. ; Belmont, John ; Black, James...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175 (2017) 1 - p. 40-47 , 2017

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

14

Gene Expression Profiling Identifies Cell Proliferation and..:

Shivanna, Binoy ; Maity, Suman ; Zhang, Shaojie...
Toxicological Sciences. 152 (2016) 1 - p. 155-168 , 2016

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

15

Multi-omic profiles of hepatic metabolism in TPN-fed preter..:

Guthrie, Gregory ; Kulkarni, Madhulika ; Vlaardingerbroek, Hester...
Journal of Lipid Research. 57 (2016) 9 - p. 1696-1711 , 2016

Link: https://doi.org/10.1194/..